Incidental Mutation 'IGL00465:Shroom1'
| ID |
332141 |
| 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 # |
IGL00465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53354921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 280
(D280E)
|
| 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: D280E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: D280E
| 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: D280E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: D280E
| 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: D280E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: D280E
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,102 (GRCm39) |
S2T |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,863,567 (GRCm39) |
W7R |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,046,054 (GRCm39) |
D279V |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,566,871 (GRCm39) |
L335Q |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,568,216 (GRCm39) |
K299* |
probably null |
Het |
| Cd200r2 |
A |
T |
16: 44,729,651 (GRCm39) |
H102L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,604,863 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,990,441 (GRCm39) |
F380L |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,666 (GRCm39) |
S549P |
probably damaging |
Het |
| Dysf |
G |
T |
6: 84,176,830 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,897,825 (GRCm39) |
C166* |
probably null |
Het |
| Fam227b |
T |
C |
2: 125,986,245 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
G |
14: 62,640,649 (GRCm39) |
Q752P |
probably benign |
Het |
| Hal |
T |
C |
10: 93,325,931 (GRCm39) |
|
probably null |
Het |
| Hao1 |
C |
A |
2: 134,396,190 (GRCm39) |
K21N |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,122,394 (GRCm39) |
F536L |
probably benign |
Het |
| Lmod3 |
A |
T |
6: 97,224,822 (GRCm39) |
I333N |
probably damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,436 (GRCm39) |
D297E |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,069,659 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,751,833 (GRCm39) |
M70T |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,607 (GRCm39) |
T557A |
probably damaging |
Het |
| Nif3l1 |
C |
A |
1: 58,494,845 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,015,898 (GRCm39) |
|
probably benign |
Het |
| Nxn |
C |
A |
11: 76,165,481 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,653,185 (GRCm39) |
D551V |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,073,221 (GRCm39) |
D339G |
possibly damaging |
Het |
| Pkp4 |
T |
A |
2: 59,169,099 (GRCm39) |
S408T |
probably damaging |
Het |
| Pxmp2 |
T |
C |
5: 110,431,582 (GRCm39) |
T54A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,011,019 (GRCm39) |
V2362E |
probably damaging |
Het |
| Rps6kl1 |
A |
G |
12: 85,186,203 (GRCm39) |
S276P |
probably benign |
Het |
| Scaf4 |
C |
A |
16: 90,044,169 (GRCm39) |
M601I |
unknown |
Het |
| Scart2 |
A |
G |
7: 139,874,755 (GRCm39) |
Y411C |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,457,729 (GRCm39) |
T33S |
probably benign |
Het |
| Slc35f2 |
G |
T |
9: 53,705,298 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,436 (GRCm39) |
N112I |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,183,967 (GRCm39) |
|
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,077,679 (GRCm39) |
|
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,220,440 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
G |
A |
3: 22,246,432 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
T |
C |
2: 130,103,224 (GRCm39) |
S787P |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,877,128 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,897,215 (GRCm39) |
M272I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,073,119 (GRCm39) |
E189G |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,445,894 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,729,539 (GRCm39) |
T167S |
probably damaging |
Het |
| Zbtb3 |
A |
G |
19: 8,781,029 (GRCm39) |
D214G |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,216,780 (GRCm39) |
D50G |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,263,109 (GRCm39) |
I243L |
unknown |
Het |
|
| Other mutations in Shroom1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation