Incidental Mutation 'R4662:Shroom1'
ID |
352946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shroom1
|
Ensembl Gene |
ENSMUSG00000018387 |
Gene Name |
shroom family member 1 |
Synonyms |
1300007L22Rik, Shrm1, Apx |
MMRRC Submission |
042011-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R4662 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 53357289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 651
(T651S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018531]
[ENSMUST00000057722]
[ENSMUST00000093114]
[ENSMUST00000109013]
|
AlphaFold |
Q5SX79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018531
AA Change: T588S
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000018531 Gene: ENSMUSG00000018387 AA Change: T588S
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
AA Change: T651S
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000090802 Gene: ENSMUSG00000018387 AA Change: T651S
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: T651S
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104641 Gene: ENSMUSG00000018387 AA Change: T651S
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,891,939 (GRCm39) |
Q67L |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,080,116 (GRCm39) |
Y36F |
probably benign |
Het |
Adrb1 |
A |
G |
19: 56,711,206 (GRCm39) |
T135A |
probably damaging |
Het |
Ark2n |
T |
A |
18: 77,762,186 (GRCm39) |
Q42L |
probably benign |
Het |
Asxl2 |
G |
T |
12: 3,477,193 (GRCm39) |
W13L |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
Camk2a |
T |
C |
18: 61,074,411 (GRCm39) |
Y39H |
probably damaging |
Het |
Cavin2 |
T |
C |
1: 51,340,510 (GRCm39) |
S396P |
probably benign |
Het |
Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
Chek2 |
T |
A |
5: 111,014,908 (GRCm39) |
V459D |
probably damaging |
Het |
Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
Cobl |
A |
G |
11: 12,203,672 (GRCm39) |
V1003A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,947,416 (GRCm39) |
F257L |
possibly damaging |
Het |
Dnajc13 |
A |
C |
9: 104,084,957 (GRCm39) |
F819V |
probably damaging |
Het |
Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
Dynlt1b |
A |
G |
17: 6,699,279 (GRCm39) |
T10A |
probably benign |
Het |
Eml6 |
A |
T |
11: 29,727,390 (GRCm39) |
V1244E |
probably damaging |
Het |
Ethe1 |
G |
A |
7: 24,293,405 (GRCm39) |
S17N |
probably benign |
Het |
Foxi1 |
T |
C |
11: 34,157,578 (GRCm39) |
D149G |
probably damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,475 (GRCm39) |
E470G |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,753,072 (GRCm39) |
F56L |
probably damaging |
Het |
Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
Hyal1 |
G |
A |
9: 107,456,420 (GRCm39) |
R369H |
probably damaging |
Het |
Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,733 (GRCm39) |
I438N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,388,054 (GRCm39) |
C3331* |
probably null |
Het |
Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
Mroh9 |
C |
T |
1: 162,883,162 (GRCm39) |
C439Y |
probably damaging |
Het |
N4bp2l2 |
T |
C |
5: 150,574,160 (GRCm39) |
D85G |
probably damaging |
Het |
Nr1h2 |
A |
G |
7: 44,199,855 (GRCm39) |
Y355H |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,868,167 (GRCm39) |
I322V |
probably benign |
Het |
Nup153 |
A |
C |
13: 46,840,750 (GRCm39) |
L273V |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,890,422 (GRCm39) |
L7370P |
unknown |
Het |
Or1a1 |
T |
C |
11: 74,086,542 (GRCm39) |
I71T |
probably damaging |
Het |
Or4b1 |
T |
A |
2: 89,980,222 (GRCm39) |
I43F |
probably damaging |
Het |
Or5k15 |
A |
G |
16: 58,710,287 (GRCm39) |
C99R |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,551,916 (GRCm39) |
D2041N |
probably damaging |
Het |
Ptdss1 |
A |
G |
13: 67,081,675 (GRCm39) |
D35G |
possibly damaging |
Het |
Ptprs |
G |
T |
17: 56,724,666 (GRCm39) |
T1118K |
probably damaging |
Het |
Pygb |
C |
T |
2: 150,657,036 (GRCm39) |
T329I |
probably benign |
Het |
Rhoh |
T |
A |
5: 66,050,157 (GRCm39) |
D142E |
probably benign |
Het |
Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,181,332 (GRCm39) |
I64V |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,320,582 (GRCm39) |
W1333R |
probably damaging |
Het |
Skint3 |
C |
A |
4: 112,134,863 (GRCm39) |
Y345* |
probably null |
Het |
Slc1a7 |
T |
A |
4: 107,864,751 (GRCm39) |
N263K |
probably damaging |
Het |
Sptbn2 |
C |
T |
19: 4,789,267 (GRCm39) |
R1236C |
probably damaging |
Het |
Tbx21 |
T |
C |
11: 96,992,393 (GRCm39) |
N226S |
probably benign |
Het |
Thada |
A |
G |
17: 84,743,078 (GRCm39) |
L782P |
probably damaging |
Het |
Tle1 |
T |
G |
4: 72,055,335 (GRCm39) |
I446L |
possibly damaging |
Het |
Trgv1 |
T |
A |
13: 19,524,503 (GRCm39) |
L76I |
possibly damaging |
Het |
Triobp |
A |
G |
15: 78,877,469 (GRCm39) |
D1621G |
probably damaging |
Het |
Trpm2 |
G |
C |
10: 77,773,972 (GRCm39) |
A481G |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,685,595 (GRCm39) |
M2240L |
probably benign |
Het |
Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
Vangl1 |
T |
C |
3: 102,074,238 (GRCm39) |
T290A |
probably benign |
Het |
Vmn1r233 |
T |
A |
17: 21,214,393 (GRCm39) |
I186F |
probably benign |
Het |
Vmn2r102 |
G |
A |
17: 19,901,424 (GRCm39) |
C517Y |
probably damaging |
Het |
Vrk2 |
G |
A |
11: 26,421,611 (GRCm39) |
T449M |
possibly damaging |
Het |
Zfp518a |
A |
G |
19: 40,900,304 (GRCm39) |
S78G |
probably benign |
Het |
Zscan25 |
T |
C |
5: 145,223,120 (GRCm39) |
S131P |
unknown |
Het |
Zscan29 |
G |
A |
2: 120,997,096 (GRCm39) |
T140I |
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 |
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 |
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'- ATCAAGTGGCCAGGAATTCCC -3'
(R):5'- ATCAGGGTCGCTGTTTGAGC -3'
Sequencing Primer
(F):5'- TGGCCAGGAATTCCCAGAAG -3'
(R):5'- TGTTTGAGCCCGCCCTAG -3'
|
Posted On |
2015-10-08 |