Incidental Mutation 'R7919:Shroom1'
| ID |
648238 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7919 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53354220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 47
(T47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018531]
[ENSMUST00000093114]
[ENSMUST00000109013]
|
| AlphaFold |
Q5SX79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018531
AA Change: T47A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: T47A
| 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 |
possibly damaging
Transcript: ENSMUST00000093114
AA Change: T47A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: T47A
| 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 |
probably benign
Transcript: ENSMUST00000109013
AA Change: T47A
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: T47A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
G |
3: 137,885,311 (GRCm39) |
K95T |
probably damaging |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,461 (GRCm39) |
T113A |
unknown |
Het |
| Abcc2 |
T |
C |
19: 43,805,248 (GRCm39) |
Y701H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 69,036,091 (GRCm39) |
H190L |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,431 (GRCm39) |
T623A |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,290,906 (GRCm39) |
T462A |
probably benign |
Het |
| Calhm2 |
C |
T |
19: 47,121,447 (GRCm39) |
V241M |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,868,429 (GRCm39) |
I314V |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,017,413 (GRCm39) |
D407N |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,350,742 (GRCm39) |
E2588G |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,229,990 (GRCm39) |
N178Y |
probably damaging |
Het |
| Eaf2 |
T |
A |
16: 36,630,914 (GRCm39) |
E86D |
probably damaging |
Het |
| Elf1 |
C |
A |
14: 79,798,339 (GRCm39) |
D75E |
probably benign |
Het |
| Fem1c |
T |
C |
18: 46,657,370 (GRCm39) |
T115A |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,936,611 (GRCm39) |
V186A |
probably benign |
Het |
| Gatb |
T |
A |
3: 85,511,828 (GRCm39) |
S194R |
probably damaging |
Het |
| Gm10775 |
T |
A |
13: 65,407,913 (GRCm39) |
N71K |
unknown |
Het |
| Gm19965 |
T |
A |
1: 116,749,850 (GRCm39) |
C510* |
probably null |
Het |
| Hydin |
A |
G |
8: 110,993,971 (GRCm39) |
T2A |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
G |
A |
2: 136,930,366 (GRCm39) |
T726M |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,439 (GRCm39) |
D1306G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,224,420 (GRCm39) |
E366V |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,899,418 (GRCm39) |
E872G |
possibly damaging |
Het |
| Med6 |
G |
A |
12: 81,620,621 (GRCm39) |
R242* |
probably null |
Het |
| Meis2 |
A |
G |
2: 115,697,788 (GRCm39) |
V370A |
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,926,498 (GRCm39) |
R480* |
probably null |
Het |
| Mup3 |
A |
T |
4: 62,002,829 (GRCm39) |
N177K |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,417,356 (GRCm39) |
V3435E |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,390 (GRCm39) |
T880A |
probably benign |
Het |
| Obox1 |
A |
T |
7: 15,290,256 (GRCm39) |
K200* |
probably null |
Het |
| Or8j3 |
A |
T |
2: 86,028,609 (GRCm39) |
C162* |
probably null |
Het |
| Ovgp1 |
T |
A |
3: 105,888,601 (GRCm39) |
V319D |
probably damaging |
Het |
| Plxdc2 |
A |
T |
2: 16,553,036 (GRCm39) |
I145F |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,547 (GRCm39) |
N5S |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,880,438 (GRCm39) |
Y95C |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,020,297 (GRCm39) |
S44P |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,273,595 (GRCm39) |
E49G |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,406,507 (GRCm39) |
S281P |
probably benign |
Het |
| Tg |
A |
T |
15: 66,555,923 (GRCm39) |
I872F |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,399 (GRCm39) |
A564T |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,087 (GRCm39) |
E98G |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,624,822 (GRCm39) |
L1857P |
|
Het |
| Wars1 |
C |
T |
12: 108,847,030 (GRCm39) |
E125K |
probably benign |
Het |
| Wnt16 |
G |
A |
6: 22,291,049 (GRCm39) |
S159N |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,330,912 (GRCm39) |
F817S |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,108 (GRCm39) |
S125P |
possibly 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 |
|
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 |
|
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'- AGGTCTGCCAACTCCAATTTC -3'
(R):5'- TTTCGCTGGAAGGACGTCTC -3'
Sequencing Primer
(F):5'- TTCCAACTGTATAAGCATGGAGGCC -3'
(R):5'- TTAGTGGTCCCGGGCTTCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation