Incidental Mutation 'IGL03062:Shroom1'
| ID |
409484 |
| 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 # |
IGL03062
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53354206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 42
(D42G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018531]
[ENSMUST00000093114]
[ENSMUST00000109013]
|
| AlphaFold |
Q5SX79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018531
AA Change: D42G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: D42G
| 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: ENSMUST00000093114
AA Change: D42G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: D42G
| 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 |
probably benign
Transcript: ENSMUST00000109013
AA Change: D42G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: D42G
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
| Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
| Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
| Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
| Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
| Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
| Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
| Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
| Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
| Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
| Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
| Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
| Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
| Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
| Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
| Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
| Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
| Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
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 |
|
IGL01316:Shroom1
|
APN |
11 |
53,356,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02512:Shroom1
|
APN |
11 |
53,357,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation