Incidental Mutation 'R6199:Igsf5'
| ID |
503123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf5
|
| Ensembl Gene |
ENSMUSG00000000159 |
| Gene Name |
immunoglobulin superfamily, member 5 |
| Synonyms |
Igsf5, Jam4, 2010003D20Rik |
| MMRRC Submission |
044339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6199 (G1)
|
| Quality Score |
170.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
96162868-96223321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96222939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 61
(S61L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113794]
[ENSMUST00000113795]
[ENSMUST00000131567]
[ENSMUST00000136292]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000161
|
| SMART Domains |
Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
|
PSI
|
24 |
74 |
2.88e-4 |
SMART |
|
INB
|
32 |
419 |
7.05e-119 |
SMART |
|
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
|
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
|
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113773
|
| SMART Domains |
Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
|
PSI
|
24 |
74 |
2.88e-4 |
SMART |
|
INB
|
32 |
419 |
7.05e-119 |
SMART |
|
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
|
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
|
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113794
AA Change: S341L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: S341L
| 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: ENSMUST00000113795
|
| SMART Domains |
Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
| 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: ENSMUST00000131567
|
| SMART Domains |
Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
PSI
|
24 |
74 |
2.88e-4 |
SMART |
|
INB
|
32 |
419 |
7.05e-119 |
SMART |
|
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131777
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136292
AA Change: S61L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,407,887 (GRCm39) |
D206V |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,797,655 (GRCm39) |
D685V |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,809,019 (GRCm39) |
S77P |
probably benign |
Het |
| Ccdc194 |
T |
C |
8: 71,978,109 (GRCm39) |
N83D |
probably benign |
Het |
| Ceacam5 |
A |
T |
7: 17,448,810 (GRCm39) |
T59S |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,822,186 (GRCm39) |
G1194S |
probably benign |
Het |
| Ces1e |
A |
C |
8: 93,944,163 (GRCm39) |
F218L |
probably damaging |
Het |
| Cilk1 |
T |
C |
9: 78,071,921 (GRCm39) |
V531A |
probably benign |
Het |
| Cps1 |
TGTCCATTGGTC |
TGTC |
1: 67,201,774 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,730,883 (GRCm39) |
V843E |
probably damaging |
Het |
| Fuca2 |
G |
T |
10: 13,381,783 (GRCm39) |
W232L |
probably damaging |
Het |
| Gdf7 |
T |
C |
12: 8,348,832 (GRCm39) |
D155G |
unknown |
Het |
| Ggcx |
G |
T |
6: 72,407,122 (GRCm39) |
V753F |
possibly damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,173 (GRCm39) |
T89S |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,619 (GRCm39) |
K353R |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,696,962 (GRCm39) |
I403T |
probably benign |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Insc |
A |
T |
7: 114,390,401 (GRCm39) |
|
probably null |
Het |
| Izumo4 |
G |
A |
10: 80,538,707 (GRCm39) |
G53D |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,911,267 (GRCm39) |
P693S |
possibly damaging |
Het |
| Lgals4 |
G |
A |
7: 28,535,317 (GRCm39) |
R27H |
probably damaging |
Het |
| Lpcat2b |
A |
G |
5: 107,581,171 (GRCm39) |
R167G |
probably benign |
Het |
| Man1a |
C |
T |
10: 53,890,552 (GRCm39) |
V288I |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,464,637 (GRCm39) |
S1676A |
probably damaging |
Het |
| Mbl1 |
G |
T |
14: 40,875,572 (GRCm39) |
V9F |
unknown |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,051 (GRCm39) |
C241S |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,012 (GRCm39) |
L227P |
probably damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,335,685 (GRCm39) |
V253E |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,454 (GRCm39) |
H464R |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,024,398 (GRCm39) |
M490K |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,359,911 (GRCm39) |
V1268A |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,264 (GRCm39) |
I71N |
possibly damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,177 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
A |
T |
4: 99,836,151 (GRCm39) |
I412F |
probably damaging |
Het |
| Plaur |
A |
T |
7: 24,164,628 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppm1h |
G |
A |
10: 122,756,644 (GRCm39) |
V430M |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prph |
A |
G |
15: 98,954,713 (GRCm39) |
T35A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,510,085 (GRCm39) |
G780S |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,908 (GRCm39) |
N260K |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,470 (GRCm39) |
D1520G |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,376,686 (GRCm39) |
I192L |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,874,993 (GRCm39) |
D103G |
probably damaging |
Het |
| Smndc1 |
G |
A |
19: 53,372,063 (GRCm39) |
T117M |
probably benign |
Het |
| Tesk2 |
A |
G |
4: 116,649,367 (GRCm39) |
D159G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,644 (GRCm39) |
N853K |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly 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 |
|
R5957:Igsf5
|
UTSW |
16 |
96,165,249 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- AGAGAAACACAGGCATGCTC -3'
(R):5'- TCACCAGTGAGTTCTAGGGAC -3'
Sequencing Primer
(F):5'- ACACAGGCATGCTCATTCTC -3'
(R):5'- TGGACTCTCAGGATTCAAGTCAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation