Incidental Mutation 'IGL01316:Shroom1'
| ID |
73846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shroom1
|
| Ensembl Gene |
ENSMUSG00000018387 |
| Gene Name |
shroom family member 1 |
| Synonyms |
1300007L22Rik, Shrm1, Apx |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL01316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53356385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 416
(A416V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018531]
[ENSMUST00000057722]
[ENSMUST00000093114]
[ENSMUST00000109013]
|
| AlphaFold |
Q5SX79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018531
AA Change: A353V
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: A353V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASD1
|
108 |
269 |
1.1e-21 |
PFAM |
|
low complexity region
|
410 |
417 |
N/A |
INTRINSIC |
|
Pfam:ASD2
|
454 |
732 |
4.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057722
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093114
AA Change: A416V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: A416V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASD1
|
108 |
269 |
3.7e-22 |
PFAM |
|
low complexity region
|
473 |
480 |
N/A |
INTRINSIC |
|
Pfam:ASD2
|
517 |
715 |
1e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109010
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109013
AA Change: A416V
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: A416V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASD1
|
114 |
269 |
4.2e-19 |
PFAM |
|
low complexity region
|
473 |
480 |
N/A |
INTRINSIC |
|
Pfam:ASD2
|
518 |
795 |
2.4e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155297
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,935,404 (GRCm39) |
V326A |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,362 (GRCm39) |
D883G |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,331,784 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,046,702 (GRCm39) |
V1796A |
probably benign |
Het |
| Ccdc186 |
A |
C |
19: 56,801,845 (GRCm39) |
C91G |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,196 (GRCm39) |
T63A |
probably benign |
Het |
| Cyp3a11 |
T |
A |
5: 145,791,961 (GRCm39) |
K477N |
possibly damaging |
Het |
| Dram2 |
T |
A |
3: 106,480,296 (GRCm39) |
V116E |
possibly damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,950 (GRCm39) |
Y181H |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,143,258 (GRCm39) |
F184L |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,748,587 (GRCm39) |
H1102L |
probably benign |
Het |
| Inpp5f |
G |
A |
7: 128,292,430 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,960 (GRCm39) |
N68S |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,505,068 (GRCm39) |
D457G |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,719,646 (GRCm39) |
R675G |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,900,846 (GRCm39) |
V2200D |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,580 (GRCm39) |
|
probably benign |
Het |
| Nexn |
A |
T |
3: 151,952,870 (GRCm39) |
F283L |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,023 (GRCm39) |
D389G |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,388 (GRCm39) |
N84S |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,718 (GRCm39) |
I156V |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,420,500 (GRCm39) |
|
probably benign |
Het |
| Pirt |
T |
C |
11: 66,816,772 (GRCm39) |
S28P |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,975 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,791 (GRCm39) |
T478A |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,808,552 (GRCm39) |
S106P |
probably benign |
Het |
| Ski |
C |
T |
4: 155,306,143 (GRCm39) |
A279T |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,468 (GRCm39) |
V28A |
probably damaging |
Het |
| Tmem126a |
G |
A |
7: 90,101,927 (GRCm39) |
P91S |
probably damaging |
Het |
| Ucma |
T |
C |
2: 4,986,042 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Shroom1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Shroom1
|
APN |
11 |
53,354,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00985:Shroom1
|
APN |
11 |
53,356,796 (GRCm39) |
missense |
probably benign |
|
|
IGL01111:Shroom1
|
APN |
11 |
53,354,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02512:Shroom1
|
APN |
11 |
53,357,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Shroom1
|
APN |
11 |
53,354,206 (GRCm39) |
missense |
probably benign |
|
|
bracket
|
UTSW |
11 |
53,354,809 (GRCm39) |
nonsense |
probably null |
|
|
shitake
|
UTSW |
11 |
53,356,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0083:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0108:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0108:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0242:Shroom1
|
UTSW |
11 |
53,356,312 (GRCm39) |
splice site |
probably null |
|
|
R0242:Shroom1
|
UTSW |
11 |
53,356,312 (GRCm39) |
splice site |
probably null |
|
|
R0357:Shroom1
|
UTSW |
11 |
53,356,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0661:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1875:Shroom1
|
UTSW |
11 |
53,356,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2356:Shroom1
|
UTSW |
11 |
53,357,274 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4657:Shroom1
|
UTSW |
11 |
53,356,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4662:Shroom1
|
UTSW |
11 |
53,357,289 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4690:Shroom1
|
UTSW |
11 |
53,356,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4734:Shroom1
|
UTSW |
11 |
53,356,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Shroom1
|
UTSW |
11 |
53,355,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4964:Shroom1
|
UTSW |
11 |
53,355,999 (GRCm39) |
missense |
probably benign |
|
|
R5000:Shroom1
|
UTSW |
11 |
53,357,944 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5046:Shroom1
|
UTSW |
11 |
53,354,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5141:Shroom1
|
UTSW |
11 |
53,354,809 (GRCm39) |
nonsense |
probably null |
|
|
R5256:Shroom1
|
UTSW |
11 |
53,356,334 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5273:Shroom1
|
UTSW |
11 |
53,354,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5529:Shroom1
|
UTSW |
11 |
53,354,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Shroom1
|
UTSW |
11 |
53,354,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6058:Shroom1
|
UTSW |
11 |
53,354,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6408:Shroom1
|
UTSW |
11 |
53,354,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6677:Shroom1
|
UTSW |
11 |
53,354,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7090:Shroom1
|
UTSW |
11 |
53,356,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Shroom1
|
UTSW |
11 |
53,356,075 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7654:Shroom1
|
UTSW |
11 |
53,357,735 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7919:Shroom1
|
UTSW |
11 |
53,354,220 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7964:Shroom1
|
UTSW |
11 |
53,355,149 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8338:Shroom1
|
UTSW |
11 |
53,354,107 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8365:Shroom1
|
UTSW |
11 |
53,356,468 (GRCm39) |
nonsense |
probably null |
|
|
R8386:Shroom1
|
UTSW |
11 |
53,357,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Shroom1
|
UTSW |
11 |
53,355,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9116:Shroom1
|
UTSW |
11 |
53,354,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9392:Shroom1
|
UTSW |
11 |
53,354,674 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9410:Shroom1
|
UTSW |
11 |
53,354,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Shroom1
|
UTSW |
11 |
53,357,612 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation