Incidental Mutation 'R5957:Igsf5'
| ID |
471252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf5
|
| Ensembl Gene |
ENSMUSG00000000159 |
| Gene Name |
immunoglobulin superfamily, member 5 |
| Synonyms |
Igsf5, Jam4, 2010003D20Rik |
| MMRRC Submission |
043246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5957 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
96162868-96223321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96165249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000163]
[ENSMUST00000081093]
[ENSMUST00000113794]
[ENSMUST00000113795]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000163
AA Change: V8A
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
127 |
9.63e-6 |
SMART |
|
IG
|
134 |
221 |
2.64e0 |
SMART |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081093
AA Change: V8A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
125 |
4.74e-5 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113794
AA Change: V8A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
127 |
9.63e-6 |
SMART |
|
IG
|
134 |
221 |
2.64e0 |
SMART |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000113795
AA Change: V8A
|
| SMART Domains |
Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
125 |
4.74e-5 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
| Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
| Bnip2 |
T |
C |
9: 69,906,520 (GRCm39) |
I147T |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,150 (GRCm39) |
I206T |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
| Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
| Fbxw13 |
C |
T |
9: 109,021,734 (GRCm39) |
|
probably null |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
| Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
| Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
| Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,856 (GRCm39) |
D647G |
probably benign |
Het |
| Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
| Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
| Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,831 (GRCm39) |
L341P |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,235,168 (GRCm39) |
V555A |
probably benign |
Het |
| Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
| Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
probably damaging |
Het |
|
| Other mutations in Igsf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Igsf5
|
APN |
16 |
96,192,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01335:Igsf5
|
APN |
16 |
96,174,353 (GRCm39) |
splice site |
probably benign |
|
|
IGL02576:Igsf5
|
APN |
16 |
96,187,781 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02721:Igsf5
|
APN |
16 |
96,192,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03289:Igsf5
|
APN |
16 |
96,326,632 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0630:Igsf5
|
UTSW |
16 |
96,174,023 (GRCm39) |
splice site |
probably benign |
|
|
R1858:Igsf5
|
UTSW |
16 |
96,187,829 (GRCm39) |
splice site |
probably null |
|
|
R1961:Igsf5
|
UTSW |
16 |
96,179,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Igsf5
|
UTSW |
16 |
96,165,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4491:Igsf5
|
UTSW |
16 |
96,165,281 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5123:Igsf5
|
UTSW |
16 |
96,174,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Igsf5
|
UTSW |
16 |
96,192,237 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Igsf5
|
UTSW |
16 |
96,192,226 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5558:Igsf5
|
UTSW |
16 |
96,187,731 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5950:Igsf5
|
UTSW |
16 |
96,174,072 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6199:Igsf5
|
UTSW |
16 |
96,222,939 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6298:Igsf5
|
UTSW |
16 |
96,197,648 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7164:Igsf5
|
UTSW |
16 |
96,174,048 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7197:Igsf5
|
UTSW |
16 |
96,204,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Igsf5
|
UTSW |
16 |
96,174,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Igsf5
|
UTSW |
16 |
96,222,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8453:Igsf5
|
UTSW |
16 |
96,222,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8823:Igsf5
|
UTSW |
16 |
96,222,939 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9798:Igsf5
|
UTSW |
16 |
96,174,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Igsf5
|
UTSW |
16 |
96,192,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Igsf5
|
UTSW |
16 |
96,179,533 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCAAAATGCATACTCTG -3'
(R):5'- AAGGATTGCCTATAGGGGTGAC -3'
Sequencing Primer
(F):5'- CAGTAGATCCTCTTGGCT -3'
(R):5'- AGTACCTGAGGAGGACCACC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation