Incidental Mutation 'R1722:Cuzd1'
| ID |
191550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cuzd1
|
| Ensembl Gene |
ENSMUSG00000040205 |
| Gene Name |
CUB and zona pellucida-like domains 1 |
| Synonyms |
ERG-1, UTCZP, UO-44, Itmap1 |
| MMRRC Submission |
039754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R1722 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130910283-130924021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130913373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 415
(Y415N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046611]
[ENSMUST00000124096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046611
AA Change: Y415N
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205
AA Change: Y415N
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
32 |
146 |
1.78e-16 |
SMART |
|
CUB
|
154 |
265 |
1.1e-44 |
SMART |
|
ZP
|
276 |
519 |
1.39e-63 |
SMART |
|
transmembrane domain
|
571 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Female mice homozygous for disruption of this gene exhibit impaired mammary gland development during puberty and during and following pregnancy and do not lactate. Homozygous mutant mice show an increased susceptibility to induced pancreatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
T |
2: 103,824,273 (GRCm39) |
|
probably null |
Het |
| Adss1 |
A |
T |
12: 112,602,915 (GRCm39) |
I346F |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,019 (GRCm39) |
L3101H |
probably damaging |
Het |
| Aldh3b3 |
A |
G |
19: 4,014,871 (GRCm39) |
I123V |
possibly damaging |
Het |
| Angptl1 |
C |
T |
1: 156,684,655 (GRCm39) |
P275S |
possibly damaging |
Het |
| Apoa5 |
C |
T |
9: 46,181,847 (GRCm39) |
Q308* |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,932,013 (GRCm39) |
*106W |
probably null |
Het |
| Atp2c1 |
A |
G |
9: 105,316,599 (GRCm39) |
Y485H |
probably benign |
Het |
| Atp6v1b1 |
C |
T |
6: 83,720,074 (GRCm39) |
T3I |
possibly damaging |
Het |
| Btbd7 |
A |
T |
12: 102,778,913 (GRCm39) |
I451N |
possibly damaging |
Het |
| Clasp1 |
T |
G |
1: 118,518,194 (GRCm39) |
L1080R |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,623,915 (GRCm39) |
V408A |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,797,233 (GRCm39) |
M438K |
possibly damaging |
Het |
| Ddias |
A |
G |
7: 92,509,250 (GRCm39) |
F222L |
possibly damaging |
Het |
| Efcab7 |
A |
T |
4: 99,757,815 (GRCm39) |
T321S |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,788,846 (GRCm39) |
D393E |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,181,124 (GRCm39) |
|
probably null |
Het |
| Fcgr3 |
T |
C |
1: 170,881,688 (GRCm39) |
R146G |
possibly damaging |
Het |
| Fkrp |
G |
A |
7: 16,544,719 (GRCm39) |
A381V |
probably benign |
Het |
| Gatad2b |
T |
G |
3: 90,262,986 (GRCm39) |
I476S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,975,783 (GRCm39) |
H557Y |
probably benign |
Het |
| Gm2431 |
A |
T |
7: 141,811,599 (GRCm39) |
C102S |
unknown |
Het |
| Hoxd13 |
A |
G |
2: 74,500,389 (GRCm39) |
N310S |
probably benign |
Het |
| Il9 |
T |
A |
13: 56,627,208 (GRCm39) |
T135S |
probably benign |
Het |
| Ints4 |
A |
C |
7: 97,162,786 (GRCm39) |
N476T |
probably benign |
Het |
| Kcnq4 |
A |
C |
4: 120,559,624 (GRCm39) |
D525E |
probably benign |
Het |
| Kncn |
A |
T |
4: 115,743,096 (GRCm39) |
Y57F |
probably damaging |
Het |
| Lpl |
TGG |
TG |
8: 69,349,254 (GRCm39) |
|
probably null |
Het |
| Lrrfip2 |
A |
G |
9: 111,028,829 (GRCm39) |
T351A |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,982 (GRCm39) |
E682G |
probably benign |
Het |
| Marchf7 |
A |
C |
2: 60,064,526 (GRCm39) |
R267S |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 18,051,767 (GRCm39) |
L252Q |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,980,554 (GRCm39) |
V296D |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,404,638 (GRCm39) |
T665A |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,225 (GRCm39) |
V758A |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,573,116 (GRCm39) |
D2489G |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,146,757 (GRCm39) |
T2836A |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,291,010 (GRCm39) |
V203E |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,257,846 (GRCm39) |
Q392K |
possibly damaging |
Het |
| Nploc4 |
G |
T |
11: 120,273,395 (GRCm39) |
A576E |
probably benign |
Het |
| Nxph1 |
T |
A |
6: 9,247,516 (GRCm39) |
N162K |
probably damaging |
Het |
| Or3a1 |
T |
C |
11: 74,225,271 (GRCm39) |
Y262C |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,682,805 (GRCm39) |
T315S |
probably benign |
Het |
| Pabpc2 |
T |
G |
18: 39,908,169 (GRCm39) |
I478S |
probably benign |
Het |
| Pde7b |
G |
T |
10: 20,311,990 (GRCm39) |
H190Q |
probably damaging |
Het |
| Plekha2 |
A |
T |
8: 25,532,976 (GRCm39) |
S332T |
probably benign |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rasl11a |
A |
T |
5: 146,782,052 (GRCm39) |
H9L |
probably benign |
Het |
| Rer1 |
A |
T |
4: 155,159,458 (GRCm39) |
F177I |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,669 (GRCm39) |
L74P |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,991,655 (GRCm39) |
V78A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,703,508 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
A |
C |
11: 35,898,930 (GRCm39) |
Y2743D |
probably damaging |
Het |
| Tmem101 |
T |
C |
11: 102,045,519 (GRCm39) |
Y110C |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,295,148 (GRCm39) |
N658S |
probably benign |
Het |
| Ucp1 |
A |
T |
8: 84,017,317 (GRCm39) |
T36S |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,067 (GRCm39) |
I382T |
probably damaging |
Het |
| Zfp142 |
C |
T |
1: 74,608,935 (GRCm39) |
R1620Q |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
|
| Other mutations in Cuzd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Cuzd1
|
APN |
7 |
130,917,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01140:Cuzd1
|
APN |
7 |
130,913,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01773:Cuzd1
|
APN |
7 |
130,916,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Cuzd1
|
APN |
7 |
130,921,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4504001:Cuzd1
|
UTSW |
7 |
130,911,529 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0233:Cuzd1
|
UTSW |
7 |
130,913,545 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0233:Cuzd1
|
UTSW |
7 |
130,913,545 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0363:Cuzd1
|
UTSW |
7 |
130,917,991 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0375:Cuzd1
|
UTSW |
7 |
130,913,637 (GRCm39) |
intron |
probably benign |
|
|
R0446:Cuzd1
|
UTSW |
7 |
130,918,009 (GRCm39) |
splice site |
probably null |
|
|
R0482:Cuzd1
|
UTSW |
7 |
130,911,601 (GRCm39) |
unclassified |
probably benign |
|
|
R0765:Cuzd1
|
UTSW |
7 |
130,917,824 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0932:Cuzd1
|
UTSW |
7 |
130,921,923 (GRCm39) |
intron |
probably benign |
|
|
R1463:Cuzd1
|
UTSW |
7 |
130,918,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Cuzd1
|
UTSW |
7 |
130,913,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1920:Cuzd1
|
UTSW |
7 |
130,911,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Cuzd1
|
UTSW |
7 |
130,921,820 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2039:Cuzd1
|
UTSW |
7 |
130,916,643 (GRCm39) |
intron |
probably benign |
|
|
R2039:Cuzd1
|
UTSW |
7 |
130,911,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2857:Cuzd1
|
UTSW |
7 |
130,917,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2859:Cuzd1
|
UTSW |
7 |
130,917,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4585:Cuzd1
|
UTSW |
7 |
130,916,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Cuzd1
|
UTSW |
7 |
130,916,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Cuzd1
|
UTSW |
7 |
130,919,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4945:Cuzd1
|
UTSW |
7 |
130,918,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Cuzd1
|
UTSW |
7 |
130,913,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Cuzd1
|
UTSW |
7 |
130,917,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5355:Cuzd1
|
UTSW |
7 |
130,917,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6543:Cuzd1
|
UTSW |
7 |
130,911,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6569:Cuzd1
|
UTSW |
7 |
130,913,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Cuzd1
|
UTSW |
7 |
130,913,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6818:Cuzd1
|
UTSW |
7 |
130,918,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6819:Cuzd1
|
UTSW |
7 |
130,911,460 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7031:Cuzd1
|
UTSW |
7 |
130,910,580 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7524:Cuzd1
|
UTSW |
7 |
130,913,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8328:Cuzd1
|
UTSW |
7 |
130,913,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8403:Cuzd1
|
UTSW |
7 |
130,913,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Cuzd1
|
UTSW |
7 |
130,919,720 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8519:Cuzd1
|
UTSW |
7 |
130,910,626 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8879:Cuzd1
|
UTSW |
7 |
130,910,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8977:Cuzd1
|
UTSW |
7 |
130,923,754 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9672:Cuzd1
|
UTSW |
7 |
130,919,847 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGAAATACACGAGCACATAC -3'
(R):5'- AGAGGACCACGCGATCAGCTATAC -3'
Sequencing Primer
(F):5'- ACATACCCGCTGCTGATTAAGTC -3'
(R):5'- CAGGATCACCTTCATCGAGTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation