Incidental Mutation 'R7206:Pam'
| ID |
560587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
045284-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7206 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97823757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 225
(S225P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
| AlphaFold |
P97467 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058762
AA Change: S225P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: S225P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu2_monooxygen
|
62 |
178 |
7.8e-27 |
PFAM |
|
Pfam:Cu2_monoox_C
|
199 |
346 |
6.2e-47 |
PFAM |
|
Pfam:NHL
|
633 |
662 |
2.1e-8 |
PFAM |
|
low complexity region
|
673 |
680 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
686 |
714 |
2.7e-8 |
PFAM |
|
Pfam:NHL
|
782 |
809 |
2.8e-7 |
PFAM |
|
transmembrane domain
|
870 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
969 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097625
AA Change: S225P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: S225P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu2_monooxygen
|
60 |
183 |
3.7e-34 |
PFAM |
|
Pfam:Cu2_monoox_C
|
198 |
349 |
1.4e-54 |
PFAM |
|
Pfam:NHL
|
581 |
608 |
9.4e-9 |
PFAM |
|
Pfam:NHL
|
633 |
662 |
2.1e-8 |
PFAM |
|
low complexity region
|
673 |
680 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
686 |
714 |
2.2e-8 |
PFAM |
|
Pfam:NHL
|
782 |
809 |
3.6e-8 |
PFAM |
|
transmembrane domain
|
869 |
891 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
968 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159841
|
| SMART Domains |
Protein: ENSMUSP00000124479
Gene: ENSMUSG00000026335
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu2_monoox_C
|
1 |
53 |
4.3e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161567
AA Change: S225P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: S225P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Cu2_monooxygen
|
60 |
183 |
3.2e-34 |
PFAM |
|
Pfam:Cu2_monoox_C
|
198 |
349 |
1.2e-54 |
PFAM |
|
Pfam:NHL
|
475 |
502 |
8.3e-9 |
PFAM |
|
Pfam:NHL
|
527 |
556 |
1.9e-8 |
PFAM |
|
low complexity region
|
567 |
574 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
580 |
608 |
1.9e-8 |
PFAM |
|
Pfam:NHL
|
676 |
703 |
3.2e-8 |
PFAM |
|
transmembrane domain
|
764 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
863 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (87/88) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during fetal growth and development, edema, abnormal yolk sac vasculature, thin arterial walls, and abnormal bronchial epithelial morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
G |
A |
3: 59,932,662 (GRCm39) |
M392I |
probably benign |
Het |
| Aadacl4fm2 |
T |
A |
4: 144,285,211 (GRCm39) |
D142V |
probably damaging |
Het |
| Acr |
T |
C |
15: 89,458,374 (GRCm39) |
S352P |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,509,654 (GRCm39) |
C676R |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,164,238 (GRCm39) |
D247G |
probably damaging |
Het |
| Agxt2 |
A |
T |
15: 10,377,542 (GRCm39) |
E147D |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,047,144 (GRCm39) |
T805A |
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,300,212 (GRCm39) |
S106G |
probably damaging |
Het |
| Ccdc170 |
T |
A |
10: 4,464,120 (GRCm39) |
M87K |
possibly damaging |
Het |
| Ccnl2 |
T |
G |
4: 155,905,431 (GRCm39) |
V287G |
possibly damaging |
Het |
| Ccr6 |
A |
T |
17: 8,475,781 (GRCm39) |
M329L |
probably benign |
Het |
| Cflar |
G |
T |
1: 58,780,150 (GRCm39) |
M248I |
|
Het |
| Cib4 |
A |
T |
5: 30,703,110 (GRCm39) |
L5* |
probably null |
Het |
| Col27a1 |
A |
T |
4: 63,153,583 (GRCm39) |
Y645F |
probably benign |
Het |
| Cxcr2 |
A |
G |
1: 74,198,213 (GRCm39) |
T236A |
possibly damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,737,792 (GRCm39) |
L47* |
probably null |
Het |
| Dnajb6 |
A |
C |
5: 29,986,335 (GRCm39) |
K301T |
possibly damaging |
Het |
| Dpf2 |
T |
A |
19: 5,954,571 (GRCm39) |
I157F |
possibly damaging |
Het |
| Drd4 |
G |
A |
7: 140,872,032 (GRCm39) |
G28R |
probably damaging |
Het |
| Dus3l |
A |
T |
17: 57,074,807 (GRCm39) |
I310F |
probably damaging |
Het |
| Dusp29 |
A |
G |
14: 21,727,102 (GRCm39) |
V182A |
probably damaging |
Het |
| Eef1akmt3 |
A |
G |
10: 126,876,862 (GRCm39) |
L95P |
probably damaging |
Het |
| Fabp7 |
C |
T |
10: 57,661,087 (GRCm39) |
|
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,069,354 (GRCm39) |
N505S |
probably benign |
Het |
| Fam216b |
C |
A |
14: 78,322,567 (GRCm39) |
D46Y |
probably damaging |
Het |
| Gata6 |
C |
T |
18: 11,054,850 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,734,111 (GRCm39) |
I1160M |
probably benign |
Het |
| Hjv |
A |
T |
3: 96,435,444 (GRCm39) |
D234V |
probably damaging |
Het |
| Kiss1 |
A |
G |
1: 133,255,063 (GRCm39) |
K26E |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,899,780 (GRCm39) |
F494I |
probably benign |
Het |
| Ktn1 |
T |
C |
14: 47,932,985 (GRCm39) |
L713S |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,529,513 (GRCm39) |
D2052G |
probably damaging |
Het |
| Lpo |
A |
C |
11: 87,698,249 (GRCm39) |
L582R |
probably damaging |
Het |
| Map2k3 |
A |
G |
11: 60,834,406 (GRCm39) |
T125A |
|
Het |
| Matn3 |
T |
A |
12: 9,011,170 (GRCm39) |
N360K |
probably benign |
Het |
| Mlip |
A |
T |
9: 77,072,144 (GRCm39) |
V237E |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,591,146 (GRCm39) |
V999A |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,568,378 (GRCm39) |
K783E |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,457,836 (GRCm39) |
K132* |
probably null |
Het |
| Nle1 |
A |
G |
11: 82,795,757 (GRCm39) |
V230A |
probably benign |
Het |
| Or1ak2 |
T |
A |
2: 36,827,784 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,647 (GRCm39) |
I44F |
probably benign |
Het |
| Or4a68 |
T |
C |
2: 89,270,801 (GRCm39) |
|
probably benign |
Het |
| Or4f62 |
T |
G |
2: 111,986,804 (GRCm39) |
C169W |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,452,891 (GRCm39) |
S69P |
probably damaging |
Het |
| Or7e169 |
C |
T |
9: 19,757,856 (GRCm39) |
D20N |
probably damaging |
Het |
| Ormdl2 |
T |
A |
10: 128,656,284 (GRCm39) |
H7L |
possibly damaging |
Het |
| Pan2 |
C |
A |
10: 128,150,414 (GRCm39) |
Y719* |
probably null |
Het |
| Ppfia4 |
T |
C |
1: 134,255,127 (GRCm39) |
S243G |
probably benign |
Het |
| Ppig |
T |
G |
2: 69,571,910 (GRCm39) |
S210A |
unknown |
Het |
| Ppwd1 |
A |
T |
13: 104,350,106 (GRCm39) |
N426K |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,726,142 (GRCm39) |
M12L |
probably benign |
Het |
| Rnf10 |
T |
G |
5: 115,382,180 (GRCm39) |
D675A |
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,866,478 (GRCm39) |
L619H |
probably damaging |
Het |
| Rsph10b |
C |
T |
5: 143,898,010 (GRCm39) |
T497I |
possibly damaging |
Het |
| Scnm1 |
A |
T |
3: 95,041,205 (GRCm39) |
M1K |
probably null |
Het |
| Scp2 |
G |
T |
4: 107,931,638 (GRCm39) |
D332E |
probably benign |
Het |
| Senp3 |
T |
C |
11: 69,569,557 (GRCm39) |
I314V |
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,330 (GRCm39) |
|
probably null |
Het |
| Slc44a2 |
T |
C |
9: 21,258,103 (GRCm39) |
F451S |
probably damaging |
Het |
| Slfn1 |
A |
T |
11: 83,012,837 (GRCm39) |
M318L |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,051,531 (GRCm39) |
S4087L |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,395,337 (GRCm39) |
Y49C |
probably damaging |
Het |
| Tas2r134 |
T |
C |
2: 51,518,120 (GRCm39) |
Y200H |
probably benign |
Het |
| Tgfbr1 |
A |
T |
4: 47,402,941 (GRCm39) |
H315L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,323,206 (GRCm39) |
V552A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,923,075 (GRCm39) |
R2553G |
possibly damaging |
Het |
| Tomm40 |
C |
G |
7: 19,444,861 (GRCm39) |
R173S |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,517,851 (GRCm39) |
D650G |
probably damaging |
Het |
| Tpo |
G |
C |
12: 30,153,133 (GRCm39) |
S407W |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,174,583 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,378 (GRCm39) |
E99G |
probably damaging |
Het |
| Tubb2a |
C |
A |
13: 34,259,505 (GRCm39) |
S95I |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,226,731 (GRCm39) |
R114L |
probably benign |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,582 (GRCm39) |
I156L |
possibly damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,623 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,016,727 (GRCm39) |
M397K |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,522,075 (GRCm39) |
N88S |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,662 (GRCm39) |
N150S |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,014,350 (GRCm39) |
Y100N |
probably damaging |
Het |
| Vps8 |
A |
C |
16: 21,276,171 (GRCm39) |
I235L |
probably damaging |
Het |
| Yipf2 |
T |
A |
9: 21,501,657 (GRCm39) |
H157L |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,961,073 (GRCm39) |
H426L |
probably damaging |
Het |
| Zfp503 |
G |
T |
14: 22,035,553 (GRCm39) |
S454R |
possibly damaging |
Het |
| Zfp619 |
C |
T |
7: 39,184,824 (GRCm39) |
R285C |
probably benign |
Het |
|
| Other mutations in Pam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Pam
|
APN |
1 |
97,852,152 (GRCm39) |
splice site |
probably benign |
|
|
IGL00485:Pam
|
APN |
1 |
97,750,678 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00597:Pam
|
APN |
1 |
97,762,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01585:Pam
|
APN |
1 |
97,792,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01776:Pam
|
APN |
1 |
97,813,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01981:Pam
|
APN |
1 |
97,762,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Pam
|
APN |
1 |
97,768,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Pam
|
APN |
1 |
97,768,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02882:Pam
|
APN |
1 |
97,768,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03142:Pam
|
APN |
1 |
97,822,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Pam
|
APN |
1 |
97,792,054 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0084:Pam
|
UTSW |
1 |
97,823,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0200:Pam
|
UTSW |
1 |
97,822,126 (GRCm39) |
splice site |
probably null |
|
|
R0520:Pam
|
UTSW |
1 |
97,811,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0734:Pam
|
UTSW |
1 |
97,792,087 (GRCm39) |
nonsense |
probably null |
|
|
R1881:Pam
|
UTSW |
1 |
97,850,876 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2040:Pam
|
UTSW |
1 |
97,792,167 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2106:Pam
|
UTSW |
1 |
97,759,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Pam
|
UTSW |
1 |
97,850,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Pam
|
UTSW |
1 |
97,823,403 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3618:Pam
|
UTSW |
1 |
97,762,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3619:Pam
|
UTSW |
1 |
97,762,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Pam
|
UTSW |
1 |
97,782,481 (GRCm39) |
intron |
probably benign |
|
|
R3848:Pam
|
UTSW |
1 |
97,782,481 (GRCm39) |
intron |
probably benign |
|
|
R3849:Pam
|
UTSW |
1 |
97,782,481 (GRCm39) |
intron |
probably benign |
|
|
R4128:Pam
|
UTSW |
1 |
97,762,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4231:Pam
|
UTSW |
1 |
97,811,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4233:Pam
|
UTSW |
1 |
97,792,119 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4404:Pam
|
UTSW |
1 |
97,782,446 (GRCm39) |
intron |
probably benign |
|
|
R4536:Pam
|
UTSW |
1 |
97,772,424 (GRCm39) |
nonsense |
probably null |
|
|
R4738:Pam
|
UTSW |
1 |
97,850,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Pam
|
UTSW |
1 |
97,749,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Pam
|
UTSW |
1 |
97,768,090 (GRCm39) |
nonsense |
probably null |
|
|
R5572:Pam
|
UTSW |
1 |
97,782,469 (GRCm39) |
intron |
probably benign |
|
|
R5654:Pam
|
UTSW |
1 |
97,792,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5659:Pam
|
UTSW |
1 |
97,770,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Pam
|
UTSW |
1 |
97,762,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6513:Pam
|
UTSW |
1 |
97,765,752 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6696:Pam
|
UTSW |
1 |
97,813,452 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6743:Pam
|
UTSW |
1 |
97,823,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6833:Pam
|
UTSW |
1 |
97,765,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Pam
|
UTSW |
1 |
97,765,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7098:Pam
|
UTSW |
1 |
97,826,072 (GRCm39) |
missense |
probably benign |
|
|
R7117:Pam
|
UTSW |
1 |
97,904,841 (GRCm39) |
start gained |
probably benign |
|
|
R7152:Pam
|
UTSW |
1 |
97,813,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Pam
|
UTSW |
1 |
97,762,203 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7262:Pam
|
UTSW |
1 |
97,782,448 (GRCm39) |
missense |
|
|
|
R7434:Pam
|
UTSW |
1 |
97,903,515 (GRCm39) |
nonsense |
probably null |
|
|
R7466:Pam
|
UTSW |
1 |
97,769,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Pam
|
UTSW |
1 |
97,780,910 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7790:Pam
|
UTSW |
1 |
97,749,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Pam
|
UTSW |
1 |
97,768,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Pam
|
UTSW |
1 |
97,813,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Pam
|
UTSW |
1 |
97,762,199 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8404:Pam
|
UTSW |
1 |
97,823,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Pam
|
UTSW |
1 |
97,762,127 (GRCm39) |
splice site |
probably benign |
|
|
R9092:Pam
|
UTSW |
1 |
97,791,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9229:Pam
|
UTSW |
1 |
97,753,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9261:Pam
|
UTSW |
1 |
97,903,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9409:Pam
|
UTSW |
1 |
97,749,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Pam
|
UTSW |
1 |
97,822,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Pam
|
UTSW |
1 |
97,826,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9500:Pam
|
UTSW |
1 |
97,772,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9510:Pam
|
UTSW |
1 |
97,826,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9653:Pam
|
UTSW |
1 |
97,768,469 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1176:Pam
|
UTSW |
1 |
97,862,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCATAAGAGTTCAAGGAATTCG -3'
(R):5'- AGGCTCTTAACACGCGTTAG -3'
Sequencing Primer
(F):5'- TCGAGAAGATATACTTAAGGTCCAGC -3'
(R):5'- GAATAAACGTTTGATACCTGCTGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation