Incidental Mutation 'R3608:Tm9sf4'
| ID |
269150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf4
|
| Ensembl Gene |
ENSMUSG00000068040 |
| Gene Name |
transmembrane 9 superfamily member 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
153003223-153052386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153020897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 35
(H35R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089027]
|
| AlphaFold |
Q8BH24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089027
AA Change: H35R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086422
Gene: ENSMUSG00000068040
AA Change: H35R
| 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: ENSMUST00000137446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147978
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gnt4 |
C |
A |
5: 123,648,838 (GRCm39) |
R68S |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,924,894 (GRCm39) |
L610P |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,291,831 (GRCm39) |
R1783S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,845,119 (GRCm39) |
I208N |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,668,844 (GRCm39) |
L127F |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlgap4 |
C |
T |
2: 156,590,332 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,018,688 (GRCm39) |
N619K |
possibly damaging |
Het |
| Hamp2 |
T |
C |
7: 30,623,539 (GRCm39) |
T8A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,909 (GRCm39) |
N407K |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,148,393 (GRCm39) |
T391M |
probably benign |
Het |
| Mroh2a |
G |
T |
1: 88,172,717 (GRCm39) |
A829S |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,840 (GRCm39) |
T204A |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,884,925 (GRCm39) |
D30E |
probably benign |
Het |
| Rtkn |
T |
A |
6: 83,127,016 (GRCm39) |
C328S |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,579,492 (GRCm39) |
T97K |
probably benign |
Het |
| Srd5a2 |
A |
G |
17: 74,334,026 (GRCm39) |
V131A |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,255,449 (GRCm39) |
D1412E |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,660,235 (GRCm39) |
V216I |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,910,154 (GRCm39) |
C126* |
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 |
|
R2321:Tm9sf4
|
UTSW |
2 |
153,046,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACACAAGGACCTCAGGCTTC -3'
(R):5'- GCCAGCTATGCAGTATGGAG -3'
Sequencing Primer
(F):5'- CTGGCCAGTGCAAACAGATTTG -3'
(R):5'- CTATGCAGTATGGAGTCAAGCCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation