Incidental Mutation 'R5123:Igsf5'
ID |
393421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf5
|
Ensembl Gene |
ENSMUSG00000000159 |
Gene Name |
immunoglobulin superfamily, member 5 |
Synonyms |
Igsf5, Jam4, 2010003D20Rik |
MMRRC Submission |
042711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5123 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
96162868-96223321 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96174279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 103
(D103G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000163]
[ENSMUST00000081093]
[ENSMUST00000113794]
[ENSMUST00000113795]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000163
AA Change: D103G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000163 Gene: ENSMUSG00000000159 AA Change: D103G
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 damaging
Transcript: ENSMUST00000081093
AA Change: D103G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079874 Gene: ENSMUSG00000000159 AA Change: D103G
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 damaging
Transcript: ENSMUST00000113794
AA Change: D103G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109425 Gene: ENSMUSG00000000159 AA Change: D103G
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: D103G
|
SMART Domains |
Protein: ENSMUSP00000109426 Gene: ENSMUSG00000000159 AA Change: D103G
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 |
|
Meta Mutation Damage Score |
0.4594 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (53/54) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,951,397 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
Net1 |
C |
T |
13: 3,936,623 (GRCm39) |
R314H |
probably damaging |
Het |
Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
Slc2a5 |
C |
A |
4: 150,224,262 (GRCm39) |
S290* |
probably null |
Het |
Spata6 |
T |
G |
4: 111,625,992 (GRCm39) |
H120Q |
possibly damaging |
Het |
Stk11 |
G |
A |
10: 79,963,775 (GRCm39) |
V194I |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,287,603 (GRCm39) |
V199A |
probably benign |
Het |
Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
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 |
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 |
R5957:Igsf5
|
UTSW |
16 |
96,165,249 (GRCm39) |
missense |
probably benign |
0.10 |
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'- ACTTCAACTGCACCGTGACTC -3'
(R):5'- GAAGGAACCCAGTTGGCAAC -3'
Sequencing Primer
(F):5'- TCACGGCTGGAAGCTTCTCATG -3'
(R):5'- CAAAGCAGTCTTCAGTTCGG -3'
|
Posted On |
2016-06-15 |