Incidental Mutation 'R0468:Igsf8'
| ID |
41723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf8
|
| Ensembl Gene |
ENSMUSG00000038034 |
| Gene Name |
immunoglobulin superfamily, member 8 |
| Synonyms |
KCT-4, PGRL, PG regulatory-like protein, EWI-2, ESTM34 |
| MMRRC Submission |
038668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0468 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172139934-172147410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 172146363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 454
(V454M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039506]
[ENSMUST00000062387]
[ENSMUST00000085912]
[ENSMUST00000128508]
[ENSMUST00000139528]
[ENSMUST00000195659]
[ENSMUST00000194204]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039506
AA Change: V517M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034
AA Change: V517M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
32 |
147 |
1.38e-6 |
SMART |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
IG
|
169 |
285 |
2.3e-3 |
SMART |
|
IG
|
309 |
433 |
9.49e-5 |
SMART |
|
IG
|
445 |
571 |
3.59e-5 |
SMART |
|
transmembrane domain
|
578 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062387
|
| SMART Domains |
Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
25 |
350 |
3.1e-142 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085912
AA Change: V517M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034
AA Change: V517M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
IG
|
32 |
147 |
1.38e-6 |
SMART |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
IG
|
169 |
285 |
2.3e-3 |
SMART |
|
IG
|
309 |
433 |
9.49e-5 |
SMART |
|
IG
|
445 |
571 |
3.59e-5 |
SMART |
|
transmembrane domain
|
578 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128508
|
| SMART Domains |
Protein: ENSMUSP00000122611
Gene: ENSMUSG00000038034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
IG
|
32 |
147 |
1.38e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139528
AA Change: V454M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
AA Change: V454M
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
19 |
84 |
3.66e1 |
SMART |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
IG
|
106 |
222 |
2.3e-3 |
SMART |
|
IG
|
246 |
370 |
9.49e-5 |
SMART |
|
IG
|
382 |
508 |
3.59e-5 |
SMART |
|
transmembrane domain
|
515 |
537 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195659
AA Change: V13M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034
AA Change: V13M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
1 |
67 |
2e-42 |
BLAST |
|
SCOP:d1nkr_1
|
6 |
64 |
1e-3 |
SMART |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194505
AA Change: V126M
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194204
|
| SMART Domains |
Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
25 |
361 |
7.4e-165 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,240,084 (GRCm39) |
H1298R |
possibly damaging |
Het |
| 5530400C23Rik |
T |
C |
6: 133,271,421 (GRCm39) |
L155P |
probably benign |
Het |
| 6820408C15Rik |
A |
T |
2: 152,283,186 (GRCm39) |
R283S |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,542 (GRCm39) |
E104D |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,958,958 (GRCm39) |
V22A |
probably benign |
Het |
| Bcl7b |
T |
C |
5: 135,209,737 (GRCm39) |
F188L |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,013 (GRCm39) |
I506F |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,355,511 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,923,271 (GRCm39) |
I1075T |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,075,750 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,595,452 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
T |
C |
3: 114,010,707 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,252,042 (GRCm39) |
Y566F |
unknown |
Het |
| Dhx29 |
A |
G |
13: 113,099,811 (GRCm39) |
Q1148R |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,119,184 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,112,374 (GRCm39) |
H46R |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
| Gm4553 |
C |
A |
7: 141,719,362 (GRCm39) |
C22F |
unknown |
Het |
| Hibadh |
C |
T |
6: 52,534,755 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,260,840 (GRCm39) |
C1613Y |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,139,855 (GRCm39) |
C708F |
possibly damaging |
Het |
| Ifi208 |
A |
T |
1: 173,511,047 (GRCm39) |
M401L |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,414,839 (GRCm39) |
|
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kcnn2 |
C |
T |
18: 45,692,538 (GRCm39) |
T38M |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,203,630 (GRCm39) |
R400H |
unknown |
Het |
| Lrp6 |
T |
C |
6: 134,462,624 (GRCm39) |
T679A |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,281,510 (GRCm39) |
|
probably null |
Het |
| Men1 |
T |
A |
19: 6,386,953 (GRCm39) |
V5E |
probably null |
Het |
| Mettl14 |
T |
C |
3: 123,165,061 (GRCm39) |
D93G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,101,568 (GRCm39) |
R4601S |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,878,594 (GRCm39) |
T272A |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,599 (GRCm39) |
N106I |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,592,619 (GRCm39) |
I31F |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,727,302 (GRCm39) |
|
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,217,877 (GRCm39) |
L502P |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxna4 |
C |
A |
6: 32,192,181 (GRCm39) |
C803F |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,600 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,139,205 (GRCm39) |
Y468C |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,044,485 (GRCm39) |
G488W |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,506,947 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,433,478 (GRCm39) |
V1333I |
probably benign |
Het |
| Slamf1 |
A |
G |
1: 171,619,939 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
T |
A |
1: 75,109,874 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,338,500 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,500 (GRCm39) |
V449D |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,139,590 (GRCm39) |
I453K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,162,030 (GRCm39) |
V414D |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,333,788 (GRCm39) |
N131D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,267 (GRCm39) |
Y85C |
probably damaging |
Het |
| Vcam1 |
A |
T |
3: 115,909,595 (GRCm39) |
Y577* |
probably null |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,423 (GRCm39) |
T306A |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,602,048 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,355,690 (GRCm39) |
N305K |
possibly damaging |
Het |
|
| Other mutations in Igsf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Igsf8
|
APN |
1 |
172,145,111 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02090:Igsf8
|
APN |
1 |
172,140,156 (GRCm39) |
intron |
probably benign |
|
|
IGL02523:Igsf8
|
APN |
1 |
172,146,980 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03092:Igsf8
|
APN |
1 |
172,140,096 (GRCm39) |
intron |
probably benign |
|
|
IGL03184:Igsf8
|
APN |
1 |
172,146,199 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0398:Igsf8
|
UTSW |
1 |
172,145,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Igsf8
|
UTSW |
1 |
172,146,265 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0612:Igsf8
|
UTSW |
1 |
172,146,974 (GRCm39) |
makesense |
probably null |
|
|
R0613:Igsf8
|
UTSW |
1 |
172,145,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Igsf8
|
UTSW |
1 |
172,143,826 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0941:Igsf8
|
UTSW |
1 |
172,143,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Igsf8
|
UTSW |
1 |
172,146,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1706:Igsf8
|
UTSW |
1 |
172,144,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Igsf8
|
UTSW |
1 |
172,146,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Igsf8
|
UTSW |
1 |
172,118,295 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3625:Igsf8
|
UTSW |
1 |
172,145,336 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3833:Igsf8
|
UTSW |
1 |
172,145,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4674:Igsf8
|
UTSW |
1 |
172,146,479 (GRCm39) |
nonsense |
probably null |
|
|
R4796:Igsf8
|
UTSW |
1 |
172,143,889 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6768:Igsf8
|
UTSW |
1 |
172,145,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Igsf8
|
UTSW |
1 |
172,143,874 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9515:Igsf8
|
UTSW |
1 |
172,146,525 (GRCm39) |
missense |
|
|
|
R9667:Igsf8
|
UTSW |
1 |
172,145,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Igsf8
|
UTSW |
1 |
172,145,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCCCTGCTATGCAACATATCTG -3'
(R):5'- AGTACCACGGTCTCTGACACTCTC -3'
Sequencing Primer
(F):5'- GGCCCTGCTCAGCTTGT -3'
(R):5'- tccacccccaccaccac -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation