Incidental Mutation 'R5754:Pomt1'
| ID |
444933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pomt1
|
| Ensembl Gene |
ENSMUSG00000039254 |
| Gene Name |
protein-O-mannosyltransferase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R5754 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32126652-32145017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32137602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 401
(V401A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036473]
[ENSMUST00000123740]
[ENSMUST00000146485]
|
| AlphaFold |
Q8R2R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036473
AA Change: V401A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: V401A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMT
|
42 |
289 |
2.8e-96 |
PFAM |
|
MIR
|
318 |
381 |
7.45e-8 |
SMART |
|
MIR
|
392 |
449 |
1.65e-9 |
SMART |
|
MIR
|
456 |
513 |
6.2e-5 |
SMART |
|
Pfam:PMT_4TMC
|
542 |
740 |
3.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123740
|
| SMART Domains |
Protein: ENSMUSP00000116543
Gene: ENSMUSG00000039254
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMT
|
20 |
233 |
1.3e-84 |
PFAM |
|
Pfam:PMT_2
|
64 |
229 |
3.2e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129163
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146485
|
| SMART Domains |
Protein: ENSMUSP00000116117
Gene: ENSMUSG00000039254
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMT
|
44 |
227 |
9e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192998
|
| Meta Mutation Damage Score |
0.8571 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
| Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
| Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
| Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
| Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
| Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
| Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
| Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
| Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,237 (GRCm39) |
V1789D |
possibly damaging |
Het |
| Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
| Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
| Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
| Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,913,373 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,477,580 (GRCm39) |
K363R |
probably damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
| Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
| Plcd3 |
T |
A |
11: 102,964,592 (GRCm39) |
Y593F |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
| Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
| Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
| Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,807,387 (GRCm39) |
C358S |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
| Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
| Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
probably benign |
Het |
|
| Other mutations in Pomt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Pomt1
|
APN |
2 |
32,131,784 (GRCm39) |
missense |
probably benign |
|
|
IGL01926:Pomt1
|
APN |
2 |
32,133,484 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02237:Pomt1
|
APN |
2 |
32,135,689 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02281:Pomt1
|
APN |
2 |
32,138,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03001:Pomt1
|
APN |
2 |
32,134,338 (GRCm39) |
missense |
probably benign |
|
|
IGL03216:Pomt1
|
APN |
2 |
32,132,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03343:Pomt1
|
APN |
2 |
32,143,724 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Pomt1
|
UTSW |
2 |
32,142,023 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0049:Pomt1
|
UTSW |
2 |
32,142,023 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0975:Pomt1
|
UTSW |
2 |
32,143,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1199:Pomt1
|
UTSW |
2 |
32,140,504 (GRCm39) |
missense |
probably benign |
|
|
R1414:Pomt1
|
UTSW |
2 |
32,133,622 (GRCm39) |
splice site |
probably benign |
|
|
R1421:Pomt1
|
UTSW |
2 |
32,126,765 (GRCm39) |
unclassified |
probably benign |
|
|
R1806:Pomt1
|
UTSW |
2 |
32,131,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Pomt1
|
UTSW |
2 |
32,140,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Pomt1
|
UTSW |
2 |
32,140,874 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2302:Pomt1
|
UTSW |
2 |
32,133,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3084:Pomt1
|
UTSW |
2 |
32,134,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3774:Pomt1
|
UTSW |
2 |
32,134,262 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3933:Pomt1
|
UTSW |
2 |
32,135,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4177:Pomt1
|
UTSW |
2 |
32,138,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4626:Pomt1
|
UTSW |
2 |
32,144,424 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4645:Pomt1
|
UTSW |
2 |
32,132,888 (GRCm39) |
intron |
probably benign |
|
|
R4864:Pomt1
|
UTSW |
2 |
32,142,004 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4911:Pomt1
|
UTSW |
2 |
32,131,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5143:Pomt1
|
UTSW |
2 |
32,144,341 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5288:Pomt1
|
UTSW |
2 |
32,134,311 (GRCm39) |
nonsense |
probably null |
|
|
R5385:Pomt1
|
UTSW |
2 |
32,134,311 (GRCm39) |
nonsense |
probably null |
|
|
R5718:Pomt1
|
UTSW |
2 |
32,138,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5735:Pomt1
|
UTSW |
2 |
32,133,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Pomt1
|
UTSW |
2 |
32,138,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6304:Pomt1
|
UTSW |
2 |
32,140,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Pomt1
|
UTSW |
2 |
32,138,728 (GRCm39) |
splice site |
probably null |
|
|
R6793:Pomt1
|
UTSW |
2 |
32,132,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Pomt1
|
UTSW |
2 |
32,142,873 (GRCm39) |
splice site |
probably null |
|
|
R7114:Pomt1
|
UTSW |
2 |
32,143,848 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8140:Pomt1
|
UTSW |
2 |
32,134,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8380:Pomt1
|
UTSW |
2 |
32,135,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Pomt1
|
UTSW |
2 |
32,142,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9578:Pomt1
|
UTSW |
2 |
32,133,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Pomt1
|
UTSW |
2 |
32,127,101 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGAAACACAAGTGCCTC -3'
(R):5'- ACTAGTCAGGGTCACTAGGAG -3'
Sequencing Primer
(F):5'- AAGTGCCTCGATTCCCAAGTG -3'
(R):5'- TCACTAGGAGCCTCAGGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation