Incidental Mutation 'R2321:Tm9sf4'
ID |
245626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tm9sf4
|
Ensembl Gene |
ENSMUSG00000068040 |
Gene Name |
transmembrane 9 superfamily member 4 |
Synonyms |
|
MMRRC Submission |
040313-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2321 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
153003223-153052386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 153046506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 582
(Y582N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089027]
|
AlphaFold |
Q8BH24 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089027
AA Change: Y582N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086422 Gene: ENSMUSG00000068040 AA Change: Y582N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:EMP70
|
55 |
600 |
5.3e-203 |
PFAM |
transmembrane domain
|
605 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152807
|
Meta Mutation Damage Score |
0.9554 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
PHENOTYPE: Homozygous mutants exhibit abnormal hair follicles and sebaceous glands, vertebrae and rib abnormalities, and increased circulating cholesterol, calcium, albumin, and total protein levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
probably null |
Het |
|
Other mutations in Tm9sf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00469:Tm9sf4
|
APN |
2 |
153,044,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02218:Tm9sf4
|
APN |
2 |
153,046,536 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02354:Tm9sf4
|
APN |
2 |
153,029,570 (GRCm39) |
missense |
probably benign |
|
IGL02361:Tm9sf4
|
APN |
2 |
153,029,570 (GRCm39) |
missense |
probably benign |
|
IGL03047:Tm9sf4
|
UTSW |
2 |
153,003,326 (GRCm39) |
utr 5 prime |
probably benign |
|
R0079:Tm9sf4
|
UTSW |
2 |
153,033,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R0147:Tm9sf4
|
UTSW |
2 |
153,037,233 (GRCm39) |
missense |
probably benign |
0.01 |
R0650:Tm9sf4
|
UTSW |
2 |
153,029,285 (GRCm39) |
missense |
probably benign |
0.00 |
R0729:Tm9sf4
|
UTSW |
2 |
153,033,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R0739:Tm9sf4
|
UTSW |
2 |
153,045,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R1695:Tm9sf4
|
UTSW |
2 |
153,032,832 (GRCm39) |
missense |
probably benign |
0.00 |
R3608:Tm9sf4
|
UTSW |
2 |
153,020,897 (GRCm39) |
missense |
probably benign |
|
R4031:Tm9sf4
|
UTSW |
2 |
153,040,264 (GRCm39) |
splice site |
probably benign |
|
R4668:Tm9sf4
|
UTSW |
2 |
153,029,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Tm9sf4
|
UTSW |
2 |
153,029,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R5318:Tm9sf4
|
UTSW |
2 |
153,029,576 (GRCm39) |
missense |
probably benign |
|
R5580:Tm9sf4
|
UTSW |
2 |
153,024,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R5705:Tm9sf4
|
UTSW |
2 |
153,024,378 (GRCm39) |
missense |
probably benign |
0.00 |
R5870:Tm9sf4
|
UTSW |
2 |
153,036,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R5996:Tm9sf4
|
UTSW |
2 |
153,037,491 (GRCm39) |
splice site |
probably null |
|
R6115:Tm9sf4
|
UTSW |
2 |
153,024,409 (GRCm39) |
critical splice donor site |
probably null |
|
R7448:Tm9sf4
|
UTSW |
2 |
153,036,267 (GRCm39) |
missense |
probably benign |
0.04 |
R7740:Tm9sf4
|
UTSW |
2 |
153,050,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Tm9sf4
|
UTSW |
2 |
153,044,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R8426:Tm9sf4
|
UTSW |
2 |
153,045,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:Tm9sf4
|
UTSW |
2 |
153,040,295 (GRCm39) |
missense |
probably damaging |
0.99 |
R9577:Tm9sf4
|
UTSW |
2 |
153,037,294 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- CATAGGAAGTCTATGCCCAAGC -3'
(R):5'- TATAATAGCTCTGGTCATCTCCAC -3'
Sequencing Primer
(F):5'- ATAAATCCAGATGTGGGGTTGTCATC -3'
(R):5'- TCCACTTTGGATGTAAAAGCAC -3'
|
Posted On |
2014-10-30 |