Incidental Mutation 'R7748:Cps1'
| ID |
596955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cps1
|
| Ensembl Gene |
ENSMUSG00000025991 |
| Gene Name |
carbamoyl-phosphate synthetase 1 |
| Synonyms |
CPSase I, D1Ucla3, CPS, 4732433M03Rik |
| MMRRC Submission |
045804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
67123026-67231259 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67139806 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 59
(Y59C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027144]
|
| AlphaFold |
Q8C196 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027144
AA Change: Y59C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: Y59C
| Domain | Start | End | E-Value | Type |
|---|
|
CPSase_sm_chain
|
44 |
184 |
2.5e-70 |
SMART |
|
Pfam:GATase
|
221 |
397 |
1.5e-40 |
PFAM |
|
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_4
|
543 |
724 |
6.8e-12 |
PFAM |
|
Pfam:CPSase_L_D2
|
546 |
750 |
1.7e-85 |
PFAM |
|
Pfam:ATP-grasp
|
554 |
722 |
4.9e-8 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
561 |
718 |
1.5e-7 |
PFAM |
|
CPSase_L_D3
|
839 |
962 |
1.18e-57 |
SMART |
|
Pfam:ATP-grasp_4
|
1085 |
1264 |
1e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
1088 |
1291 |
7.4e-32 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
1095 |
1279 |
1.6e-6 |
PFAM |
|
Pfam:ATP-grasp
|
1096 |
1263 |
2.8e-12 |
PFAM |
|
MGS
|
1373 |
1465 |
1.53e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein localized to the inner mitochondrial matrix. The encoded protein plays a role in the detoxification of ammonia by catalyzing the first step in the urea cycle in which carbomyl-phosphate is synthesized from ammonia and bicarbonate. Carbamoyl-phosphate is subsequently converted to urea that is excreted by the kidneys. Deficiency of the encoded enzyme leads to an accumulation of ammonia in the blood. High levels of ammonia are toxic to the central nervous system and result in neurological disorders. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 131,361,792 (GRCm38) |
L103F |
probably benign |
Het |
| 5330417H12Rik |
A |
G |
7: 107,624,558 (GRCm38) |
L103P |
unknown |
Het |
| Actb |
T |
C |
5: 142,904,695 (GRCm38) |
I151V |
probably benign |
Het |
| Adcy6 |
T |
A |
15: 98,604,556 (GRCm38) |
H59L |
probably benign |
Het |
| Adss2 |
G |
C |
1: 177,772,202 (GRCm38) |
S272* |
probably null |
Het |
| Aga |
A |
T |
8: 53,511,805 (GRCm38) |
M1L |
possibly damaging |
Het |
| Ajm1 |
T |
A |
2: 25,578,959 (GRCm38) |
E313D |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,465,331 (GRCm38) |
T3M |
probably damaging |
Het |
| Arhgap45 |
A |
T |
10: 80,016,932 (GRCm38) |
|
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,716,496 (GRCm38) |
H639L |
probably benign |
Het |
| BC005537 |
C |
T |
13: 24,803,399 (GRCm38) |
R7W |
possibly damaging |
Het |
| Bcl2l2 |
C |
T |
14: 54,884,379 (GRCm38) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,959,335 (GRCm38) |
|
probably null |
Het |
| Bod1l |
A |
C |
5: 41,832,340 (GRCm38) |
S347A |
probably damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,719,561 (GRCm38) |
D46G |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,340,328 (GRCm38) |
E60G |
probably damaging |
Het |
| Capza1 |
A |
T |
3: 104,825,405 (GRCm38) |
|
probably null |
Het |
| Ccdc18 |
T |
A |
5: 108,149,041 (GRCm38) |
|
probably null |
Het |
| Cdh20 |
G |
A |
1: 104,941,299 (GRCm38) |
A172T |
probably damaging |
Het |
| Cdk4 |
C |
T |
10: 127,064,429 (GRCm38) |
A65V |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,277,889 (GRCm38) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,355,633 (GRCm38) |
M1092V |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,966,619 (GRCm38) |
H1558Q |
probably benign |
Het |
| Chi3l1 |
A |
G |
1: 134,189,228 (GRCm38) |
H318R |
probably benign |
Het |
| Cyb5r4 |
T |
C |
9: 87,032,381 (GRCm38) |
V111A |
probably damaging |
Het |
| Ddx39b |
G |
A |
17: 35,252,750 (GRCm38) |
V291M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,265,117 (GRCm38) |
F709S |
probably damaging |
Het |
| Eef1b2 |
A |
T |
1: 63,177,865 (GRCm38) |
K64N |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,633,084 (GRCm38) |
D407V |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,028,969 (GRCm38) |
S940P |
probably benign |
Het |
| Fam234b |
T |
A |
6: 135,209,351 (GRCm38) |
V119E |
probably damaging |
Het |
| Fbxo46 |
G |
C |
7: 19,136,533 (GRCm38) |
C359S |
probably damaging |
Het |
| Fkbp14 |
C |
A |
6: 54,595,520 (GRCm38) |
|
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,666,649 (GRCm38) |
V1243E |
probably damaging |
Het |
| Fsbp |
C |
A |
4: 11,579,924 (GRCm38) |
T64K |
probably damaging |
Het |
| Fscb |
A |
T |
12: 64,474,407 (GRCm38) |
M95K |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,638,826 (GRCm38) |
V500G |
probably damaging |
Het |
| G2e3 |
A |
G |
12: 51,371,667 (GRCm38) |
N615S |
probably benign |
Het |
| Gart |
T |
C |
16: 91,630,652 (GRCm38) |
D486G |
possibly damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,422,398 (GRCm38) |
D696V |
probably benign |
Het |
| Glmn |
C |
T |
5: 107,562,244 (GRCm38) |
|
probably null |
Het |
| Gm47985 |
A |
T |
1: 151,182,974 (GRCm38) |
D122V |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 13,948,652 (GRCm38) |
K94E |
probably benign |
Het |
| Gnai2 |
T |
C |
9: 107,615,735 (GRCm38) |
H323R |
|
Het |
| Helz2 |
C |
T |
2: 181,234,531 (GRCm38) |
R1390H |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,967,587 (GRCm38) |
M453V |
probably benign |
Het |
| Ighv3-1 |
C |
T |
12: 113,964,650 (GRCm38) |
V30M |
probably damaging |
Het |
| Inpp5a |
A |
T |
7: 139,574,995 (GRCm38) |
R343S |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,230,239 (GRCm38) |
I403F |
possibly damaging |
Het |
| Katnip |
A |
T |
7: 125,829,801 (GRCm38) |
M558L |
probably benign |
Het |
| Krt33a |
C |
T |
11: 100,011,602 (GRCm38) |
R404H |
probably benign |
Het |
| Krt34 |
T |
A |
11: 100,038,938 (GRCm38) |
E244V |
probably damaging |
Het |
| Krt42 |
T |
C |
11: 100,266,966 (GRCm38) |
E224G |
probably damaging |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 142,175,108 (GRCm38) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 67,750,590 (GRCm38) |
L553P |
|
Het |
| Lcn9 |
T |
A |
2: 25,824,914 (GRCm38) |
*179K |
probably null |
Het |
| Ldaf1 |
A |
T |
7: 120,115,479 (GRCm38) |
I64F |
possibly damaging |
Het |
| Lrrc2 |
T |
G |
9: 110,980,931 (GRCm38) |
M345R |
possibly damaging |
Het |
| Marchf11 |
T |
C |
15: 26,387,830 (GRCm38) |
V257A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,605,706 (GRCm38) |
I224T |
probably benign |
Het |
| Mpz |
A |
T |
1: 171,159,940 (GRCm38) |
|
probably null |
Het |
| Mtr |
C |
T |
13: 12,227,839 (GRCm38) |
A442T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,847,805 (GRCm38) |
K596R |
unknown |
Het |
| Myo15a |
T |
G |
11: 60,504,901 (GRCm38) |
F1397C |
|
Het |
| Ncor2 |
T |
C |
5: 125,109,967 (GRCm38) |
I173V |
unknown |
Het |
| Ngly1 |
T |
A |
14: 16,290,820 (GRCm38) |
I434K |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,138,484 (GRCm38) |
H1655R |
possibly damaging |
Het |
| Notum |
C |
T |
11: 120,654,801 (GRCm38) |
A390T |
probably damaging |
Het |
| Or10a3n |
T |
C |
7: 108,894,078 (GRCm38) |
T115A |
probably benign |
Het |
| Or1e22 |
T |
G |
11: 73,486,168 (GRCm38) |
I219L |
probably benign |
Het |
| Pds5a |
T |
A |
5: 65,619,666 (GRCm38) |
I51F |
possibly damaging |
Het |
| Pdzd2 |
C |
A |
15: 12,385,786 (GRCm38) |
R966L |
possibly damaging |
Het |
| Plk3 |
T |
C |
4: 117,131,728 (GRCm38) |
Y278C |
probably damaging |
Het |
| Plxna1 |
T |
A |
6: 89,337,353 (GRCm38) |
|
probably null |
Het |
| Plxna1 |
C |
G |
6: 89,337,352 (GRCm38) |
|
probably null |
Het |
| Ppp4r4 |
G |
A |
12: 103,605,061 (GRCm38) |
|
probably null |
Het |
| Pramel6 |
T |
A |
2: 87,508,699 (GRCm38) |
V81E |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 143,135,889 (GRCm38) |
E277G |
possibly damaging |
Het |
| Prkg1 |
T |
A |
19: 30,993,091 (GRCm38) |
I222F |
possibly damaging |
Het |
| Proser3 |
A |
T |
7: 30,540,072 (GRCm38) |
S536T |
possibly damaging |
Het |
| Prrt4 |
C |
A |
6: 29,177,191 (GRCm38) |
G193V |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,688,772 (GRCm38) |
H645Q |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,099,504 (GRCm38) |
I744V |
probably null |
Het |
| Rad54l2 |
A |
G |
9: 106,719,034 (GRCm38) |
V235A |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rgs22 |
C |
T |
15: 36,122,269 (GRCm38) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,941,968 (GRCm38) |
D447E |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,216,926 (GRCm38) |
V744I |
possibly damaging |
Het |
| Scfd1 |
T |
G |
12: 51,389,357 (GRCm38) |
I96M |
probably benign |
Het |
| Serpina3b |
T |
C |
12: 104,130,463 (GRCm38) |
M1T |
probably null |
Het |
| Slc1a4 |
T |
C |
11: 20,332,252 (GRCm38) |
Y74C |
probably damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,326,179 (GRCm38) |
I267F |
possibly damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,229,175 (GRCm38) |
M173K |
possibly damaging |
Het |
| Sparc |
T |
C |
11: 55,398,600 (GRCm38) |
I226V |
probably benign |
Het |
| Spata22 |
T |
G |
11: 73,336,254 (GRCm38) |
I98S |
probably null |
Het |
| Spef2 |
C |
T |
15: 9,652,945 (GRCm38) |
V917M |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,449,465 (GRCm38) |
C139* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,894,702 (GRCm38) |
D2012G |
probably damaging |
Het |
| Tgm5 |
G |
A |
2: 121,052,808 (GRCm38) |
R351C |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,307,328 (GRCm38) |
W82* |
probably null |
Het |
| Topors |
T |
A |
4: 40,262,654 (GRCm38) |
D210V |
probably damaging |
Het |
| Tssk4 |
A |
T |
14: 55,651,112 (GRCm38) |
H146L |
probably damaging |
Het |
| Unc93b1 |
T |
A |
19: 3,935,250 (GRCm38) |
D19E |
unknown |
Het |
| Usp17lc |
A |
G |
7: 103,418,481 (GRCm38) |
T328A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,614,508 (GRCm38) |
Y43H |
probably benign |
Het |
| Vmn1r25 |
T |
A |
6: 57,978,564 (GRCm38) |
I247F |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,921,135 (GRCm38) |
Q287L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,963,089 (GRCm38) |
I3170N |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,400,815 (GRCm38) |
M398K |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,815,240 (GRCm38) |
|
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,132,908 (GRCm38) |
R230G |
probably benign |
Het |
|
| Other mutations in Cps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Cps1
|
APN |
1 |
67,152,380 (GRCm38) |
splice site |
probably benign |
|
|
IGL00897:Cps1
|
APN |
1 |
67,215,564 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL00928:Cps1
|
APN |
1 |
67,123,234 (GRCm38) |
missense |
probably benign |
|
|
IGL01063:Cps1
|
APN |
1 |
67,195,166 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01081:Cps1
|
APN |
1 |
67,206,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01361:Cps1
|
APN |
1 |
67,195,145 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01396:Cps1
|
APN |
1 |
67,157,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01516:Cps1
|
APN |
1 |
67,230,284 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01695:Cps1
|
APN |
1 |
67,197,035 (GRCm38) |
missense |
probably benign |
|
|
IGL02022:Cps1
|
APN |
1 |
67,172,872 (GRCm38) |
splice site |
probably benign |
|
|
IGL02032:Cps1
|
APN |
1 |
67,230,315 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02049:Cps1
|
APN |
1 |
67,143,954 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02197:Cps1
|
APN |
1 |
67,157,764 (GRCm38) |
missense |
probably benign |
|
|
IGL02217:Cps1
|
APN |
1 |
67,174,382 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02555:Cps1
|
APN |
1 |
67,214,021 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02570:Cps1
|
APN |
1 |
67,148,703 (GRCm38) |
splice site |
probably benign |
|
|
IGL02633:Cps1
|
APN |
1 |
67,123,237 (GRCm38) |
missense |
probably benign |
|
|
IGL02711:Cps1
|
APN |
1 |
67,212,517 (GRCm38) |
splice site |
probably benign |
|
|
IGL02737:Cps1
|
APN |
1 |
67,148,774 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL03030:Cps1
|
APN |
1 |
67,142,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03255:Cps1
|
APN |
1 |
67,145,801 (GRCm38) |
nonsense |
probably null |
|
|
Madman
|
UTSW |
1 |
67,160,871 (GRCm38) |
missense |
probably damaging |
0.96 |
|
maniac
|
UTSW |
1 |
67,157,878 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0109:Cps1
|
UTSW |
1 |
67,229,418 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0109:Cps1
|
UTSW |
1 |
67,229,418 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0140:Cps1
|
UTSW |
1 |
67,180,116 (GRCm38) |
missense |
probably benign |
|
|
R0318:Cps1
|
UTSW |
1 |
67,177,014 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0486:Cps1
|
UTSW |
1 |
67,165,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0488:Cps1
|
UTSW |
1 |
67,148,808 (GRCm38) |
splice site |
probably benign |
|
|
R0492:Cps1
|
UTSW |
1 |
67,157,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0521:Cps1
|
UTSW |
1 |
67,215,564 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0534:Cps1
|
UTSW |
1 |
67,143,900 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0565:Cps1
|
UTSW |
1 |
67,166,449 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R0609:Cps1
|
UTSW |
1 |
67,172,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Cps1
|
UTSW |
1 |
67,139,770 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1185:Cps1
|
UTSW |
1 |
67,195,199 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1185:Cps1
|
UTSW |
1 |
67,195,199 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1185:Cps1
|
UTSW |
1 |
67,195,199 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1220:Cps1
|
UTSW |
1 |
67,204,703 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1321:Cps1
|
UTSW |
1 |
67,143,019 (GRCm38) |
splice site |
probably benign |
|
|
R1343:Cps1
|
UTSW |
1 |
67,209,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1373:Cps1
|
UTSW |
1 |
67,229,424 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1374:Cps1
|
UTSW |
1 |
67,230,281 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1481:Cps1
|
UTSW |
1 |
67,143,882 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1711:Cps1
|
UTSW |
1 |
67,168,374 (GRCm38) |
splice site |
probably null |
|
|
R1712:Cps1
|
UTSW |
1 |
67,230,281 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1774:Cps1
|
UTSW |
1 |
67,170,882 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1799:Cps1
|
UTSW |
1 |
67,209,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1954:Cps1
|
UTSW |
1 |
67,195,196 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2074:Cps1
|
UTSW |
1 |
67,204,638 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2078:Cps1
|
UTSW |
1 |
67,195,265 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R2078:Cps1
|
UTSW |
1 |
67,157,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2111:Cps1
|
UTSW |
1 |
67,176,980 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2112:Cps1
|
UTSW |
1 |
67,176,980 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2146:Cps1
|
UTSW |
1 |
67,152,379 (GRCm38) |
splice site |
probably benign |
|
|
R2355:Cps1
|
UTSW |
1 |
67,156,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2375:Cps1
|
UTSW |
1 |
67,217,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2860:Cps1
|
UTSW |
1 |
67,166,375 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2861:Cps1
|
UTSW |
1 |
67,166,375 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2979:Cps1
|
UTSW |
1 |
67,204,704 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3427:Cps1
|
UTSW |
1 |
67,174,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3833:Cps1
|
UTSW |
1 |
67,139,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3857:Cps1
|
UTSW |
1 |
67,168,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3858:Cps1
|
UTSW |
1 |
67,168,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3859:Cps1
|
UTSW |
1 |
67,168,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3886:Cps1
|
UTSW |
1 |
67,165,500 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3887:Cps1
|
UTSW |
1 |
67,165,500 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3888:Cps1
|
UTSW |
1 |
67,165,500 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3889:Cps1
|
UTSW |
1 |
67,165,500 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4386:Cps1
|
UTSW |
1 |
67,170,995 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4497:Cps1
|
UTSW |
1 |
67,205,199 (GRCm38) |
missense |
probably null |
1.00 |
|
R4671:Cps1
|
UTSW |
1 |
67,196,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4774:Cps1
|
UTSW |
1 |
67,220,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4799:Cps1
|
UTSW |
1 |
67,142,986 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4853:Cps1
|
UTSW |
1 |
67,156,202 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4884:Cps1
|
UTSW |
1 |
67,177,024 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4900:Cps1
|
UTSW |
1 |
67,160,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4906:Cps1
|
UTSW |
1 |
67,139,763 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5091:Cps1
|
UTSW |
1 |
67,229,520 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5102:Cps1
|
UTSW |
1 |
67,206,793 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5215:Cps1
|
UTSW |
1 |
67,166,380 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5290:Cps1
|
UTSW |
1 |
67,172,709 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5732:Cps1
|
UTSW |
1 |
67,157,764 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5818:Cps1
|
UTSW |
1 |
67,166,488 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5878:Cps1
|
UTSW |
1 |
67,157,878 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6002:Cps1
|
UTSW |
1 |
67,172,755 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6034:Cps1
|
UTSW |
1 |
67,157,713 (GRCm38) |
splice site |
probably null |
|
|
R6034:Cps1
|
UTSW |
1 |
67,157,713 (GRCm38) |
splice site |
probably null |
|
|
R6199:Cps1
|
UTSW |
1 |
67,162,615 (GRCm38) |
frame shift |
probably null |
|
|
R6310:Cps1
|
UTSW |
1 |
67,142,981 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6554:Cps1
|
UTSW |
1 |
67,174,469 (GRCm38) |
nonsense |
probably null |
|
|
R6700:Cps1
|
UTSW |
1 |
67,229,523 (GRCm38) |
splice site |
probably null |
|
|
R6731:Cps1
|
UTSW |
1 |
67,160,871 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7052:Cps1
|
UTSW |
1 |
67,198,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7278:Cps1
|
UTSW |
1 |
67,170,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7313:Cps1
|
UTSW |
1 |
67,198,358 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7323:Cps1
|
UTSW |
1 |
67,157,869 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7339:Cps1
|
UTSW |
1 |
67,197,015 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7485:Cps1
|
UTSW |
1 |
67,139,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7505:Cps1
|
UTSW |
1 |
67,180,081 (GRCm38) |
missense |
probably benign |
|
|
R7853:Cps1
|
UTSW |
1 |
67,174,481 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8097:Cps1
|
UTSW |
1 |
67,228,270 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8357:Cps1
|
UTSW |
1 |
67,156,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8435:Cps1
|
UTSW |
1 |
67,212,430 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8457:Cps1
|
UTSW |
1 |
67,156,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8680:Cps1
|
UTSW |
1 |
67,204,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8805:Cps1
|
UTSW |
1 |
67,176,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8811:Cps1
|
UTSW |
1 |
67,214,087 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8819:Cps1
|
UTSW |
1 |
67,228,280 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8820:Cps1
|
UTSW |
1 |
67,228,280 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8854:Cps1
|
UTSW |
1 |
67,160,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9138:Cps1
|
UTSW |
1 |
67,215,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9185:Cps1
|
UTSW |
1 |
67,209,672 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9273:Cps1
|
UTSW |
1 |
67,152,286 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9286:Cps1
|
UTSW |
1 |
67,158,871 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9308:Cps1
|
UTSW |
1 |
67,160,959 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9326:Cps1
|
UTSW |
1 |
67,209,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9449:Cps1
|
UTSW |
1 |
67,220,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9454:Cps1
|
UTSW |
1 |
67,180,152 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9518:Cps1
|
UTSW |
1 |
67,220,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9564:Cps1
|
UTSW |
1 |
67,158,889 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9585:Cps1
|
UTSW |
1 |
67,156,182 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9618:Cps1
|
UTSW |
1 |
67,157,816 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9641:Cps1
|
UTSW |
1 |
67,195,183 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9650:Cps1
|
UTSW |
1 |
67,215,477 (GRCm38) |
missense |
|
|
|
R9668:Cps1
|
UTSW |
1 |
67,174,490 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9726:Cps1
|
UTSW |
1 |
67,156,236 (GRCm38) |
missense |
probably benign |
0.39 |
|
X0024:Cps1
|
UTSW |
1 |
67,123,247 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Cps1
|
UTSW |
1 |
67,148,719 (GRCm38) |
frame shift |
probably null |
|
|
Z1176:Cps1
|
UTSW |
1 |
67,123,268 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACACTTGCAGGTAACACAG -3'
(R):5'- TGCACAAAGCTCCACATGAG -3'
Sequencing Primer
(F):5'- AGAACAACCCCACTTAGGTG -3'
(R):5'- GCTCCACATGAGTACAATATACAATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation