Incidental Mutation 'R0083:Shroom1'
| ID |
19766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shroom1
|
| Ensembl Gene |
ENSMUSG00000018387 |
| Gene Name |
shroom family member 1 |
| Synonyms |
1300007L22Rik, Shrm1, Apx |
| MMRRC Submission |
038370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R0083 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53357764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 772
(S772P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018531]
[ENSMUST00000057722]
[ENSMUST00000093114]
[ENSMUST00000109013]
|
| AlphaFold |
Q5SX79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018531
AA Change: S709P
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: S709P
| 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 benign
Transcript: ENSMUST00000093114
|
| SMART Domains |
Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
| 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: S772P
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: S772P
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 83.1%
|
| Validation Efficiency |
88% (117/133) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,667,406 (GRCm39) |
I266F |
unknown |
Het |
| Adam39 |
T |
G |
8: 41,278,115 (GRCm39) |
F169V |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,500,215 (GRCm39) |
H1085Q |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
| Atp6v0d2 |
G |
A |
4: 19,880,001 (GRCm39) |
|
probably benign |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C1qtnf3 |
G |
A |
15: 10,975,718 (GRCm39) |
V175I |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,602,484 (GRCm39) |
M1293T |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,502,330 (GRCm39) |
I362M |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,762,346 (GRCm39) |
D104E |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,484,832 (GRCm39) |
|
probably null |
Het |
| Cul7 |
C |
A |
17: 46,966,482 (GRCm39) |
R304S |
probably benign |
Het |
| Elfn2 |
A |
T |
15: 78,557,614 (GRCm39) |
L311Q |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,561,226 (GRCm39) |
L320P |
probably damaging |
Het |
| Fads2b |
A |
T |
2: 85,324,476 (GRCm39) |
F283L |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Fkbp4 |
G |
A |
6: 128,409,370 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,746,452 (GRCm39) |
M1273V |
probably benign |
Het |
| Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Ints13 |
A |
G |
6: 146,452,162 (GRCm39) |
Y686H |
probably benign |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Krt81 |
A |
G |
15: 101,361,346 (GRCm39) |
I78T |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mctp2 |
G |
T |
7: 71,878,264 (GRCm39) |
F271L |
possibly damaging |
Het |
| Mrto4 |
C |
T |
4: 139,075,279 (GRCm39) |
V175I |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,984 (GRCm39) |
Y323C |
probably damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,279,760 (GRCm39) |
M94R |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
| Pias4 |
A |
G |
10: 81,000,000 (GRCm39) |
S18P |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,192,496 (GRCm39) |
G34S |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Sap130 |
C |
A |
18: 31,799,382 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,844,694 (GRCm39) |
P902S |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,645 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,358 (GRCm39) |
V53I |
probably benign |
Het |
| Sstr1 |
T |
A |
12: 58,260,528 (GRCm39) |
C384S |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,641 (GRCm39) |
M272V |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,550 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,030,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp939 |
A |
T |
7: 39,123,534 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAACAGCGACCCTGATGAGAGG -3'
(R):5'- TAAAGCATCGCCCCAGTTGTGG -3'
Sequencing Primer
(F):5'- AAGCAACGGTGTTCACTGC -3'
(R):5'- CCTGGGACAATGTTCCCAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation