Incidental Mutation 'R4982:Igsf3'
| ID |
384894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf3
|
| Ensembl Gene |
ENSMUSG00000042035 |
| Gene Name |
immunoglobulin superfamily, member 3 |
| Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R4982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101342983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 540
(V540A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043983]
[ENSMUST00000195164]
|
| AlphaFold |
Q6ZQA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043983
AA Change: V520A
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: V520A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
142 |
7.7e-5 |
SMART |
|
IG
|
152 |
275 |
1.99e-7 |
SMART |
|
IG
|
287 |
405 |
1.79e0 |
SMART |
|
IG
|
417 |
539 |
6.26e-5 |
SMART |
|
IG
|
553 |
674 |
3.16e-1 |
SMART |
|
IG
|
686 |
811 |
4.89e-7 |
SMART |
|
IG
|
823 |
947 |
8.38e-6 |
SMART |
|
IG
|
959 |
1109 |
6.97e-3 |
SMART |
|
transmembrane domain
|
1125 |
1147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195164
AA Change: V540A
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: V540A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
27 |
142 |
3.1e-7 |
SMART |
|
IG
|
152 |
275 |
8.2e-10 |
SMART |
|
IG
|
287 |
405 |
7.4e-3 |
SMART |
|
IG
|
437 |
559 |
2.5e-7 |
SMART |
|
IG
|
573 |
694 |
1.3e-3 |
SMART |
|
IG
|
706 |
831 |
1.9e-9 |
SMART |
|
IG
|
843 |
967 |
3.4e-8 |
SMART |
|
IG
|
979 |
1129 |
2.9e-5 |
SMART |
|
transmembrane domain
|
1145 |
1167 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,348 (GRCm39) |
I1404L |
possibly damaging |
Het |
| Adra1b |
A |
G |
11: 43,726,057 (GRCm39) |
S287P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,406 (GRCm39) |
A1280S |
possibly damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,639 (GRCm39) |
|
probably null |
Het |
| Bbs2 |
A |
G |
8: 94,808,982 (GRCm39) |
|
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,932,031 (GRCm39) |
C180* |
probably null |
Het |
| Bltp3a |
T |
C |
17: 28,105,580 (GRCm39) |
F702S |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,977,816 (GRCm39) |
V1166A |
probably benign |
Het |
| Bora |
C |
T |
14: 99,284,788 (GRCm39) |
P13S |
probably damaging |
Het |
| C2cd4c |
T |
C |
10: 79,449,075 (GRCm39) |
E24G |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,799,996 (GRCm39) |
I196N |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,542,647 (GRCm39) |
S595L |
probably benign |
Het |
| Chsy3 |
T |
A |
18: 59,542,839 (GRCm39) |
I659N |
possibly damaging |
Het |
| Cntrob |
T |
A |
11: 69,202,188 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
G |
A |
1: 45,428,618 (GRCm39) |
P983S |
possibly damaging |
Het |
| Crat |
T |
A |
2: 30,297,148 (GRCm39) |
|
probably null |
Het |
| Ctnnbl1 |
C |
T |
2: 157,678,473 (GRCm39) |
H359Y |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,732 (GRCm39) |
V83A |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,902 (GRCm39) |
S488P |
possibly damaging |
Het |
| Dmrta1 |
T |
C |
4: 89,576,801 (GRCm39) |
C86R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Fam171a1 |
G |
A |
2: 3,179,505 (GRCm39) |
|
probably null |
Het |
| Fam222b |
T |
C |
11: 78,045,569 (GRCm39) |
C249R |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,531,719 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
C |
7: 80,036,952 (GRCm39) |
Y44C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,684,933 (GRCm39) |
V51A |
probably benign |
Het |
| Gpr75 |
C |
T |
11: 30,841,463 (GRCm39) |
L123F |
possibly damaging |
Het |
| Gpr75 |
C |
A |
11: 30,841,462 (GRCm39) |
H122Q |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,774,762 (GRCm39) |
S212P |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,665,512 (GRCm39) |
H1041R |
probably benign |
Het |
| Ifna5 |
A |
G |
4: 88,753,861 (GRCm39) |
N34D |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,968 (GRCm39) |
H221L |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,197,152 (GRCm39) |
D282E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,900,539 (GRCm39) |
H3138Q |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 16,046,940 (GRCm39) |
T1689A |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,831,694 (GRCm39) |
L1671M |
probably damaging |
Het |
| Mpped1 |
T |
C |
15: 83,720,528 (GRCm39) |
F71S |
probably damaging |
Het |
| Mtpap |
C |
A |
18: 4,396,332 (GRCm39) |
H541Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,363,193 (GRCm39) |
|
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,040 (GRCm39) |
I451T |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,210,224 (GRCm39) |
E1827V |
probably damaging |
Het |
| Or1j14 |
A |
T |
2: 36,417,409 (GRCm39) |
|
probably null |
Het |
| Or2h15 |
A |
T |
17: 38,441,468 (GRCm39) |
I205N |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,855 (GRCm39) |
Y197* |
probably null |
Het |
| Or8b8 |
C |
A |
9: 37,808,811 (GRCm39) |
T37N |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,956,920 (GRCm39) |
R23H |
possibly damaging |
Het |
| Otud6b |
A |
G |
4: 14,815,607 (GRCm39) |
L261P |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,476 (GRCm39) |
N107D |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,729,308 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,906,024 (GRCm39) |
S524T |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,197 (GRCm39) |
L913R |
probably damaging |
Het |
| Pld1 |
C |
A |
3: 28,085,447 (GRCm39) |
A201D |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,052 (GRCm39) |
Q103L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,093,255 (GRCm39) |
T284M |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,085,484 (GRCm39) |
I86V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,102,857 (GRCm39) |
M201K |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,337,989 (GRCm39) |
S219P |
probably benign |
Het |
| Sp8 |
C |
T |
12: 118,812,160 (GRCm39) |
T5I |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,630,287 (GRCm39) |
N749D |
probably damaging |
Het |
| Tarm1 |
G |
C |
7: 3,537,612 (GRCm39) |
P284A |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,161,390 (GRCm39) |
E65V |
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,579,020 (GRCm39) |
H25L |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,640,674 (GRCm39) |
L170F |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,504 (GRCm39) |
*310W |
probably null |
Het |
| Tsks |
C |
T |
7: 44,593,418 (GRCm39) |
T128I |
possibly damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,494 (GRCm39) |
N44K |
possibly damaging |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,847 (GRCm39) |
I41T |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,004,532 (GRCm39) |
N1102S |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Igsf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Igsf3
|
APN |
3 |
101,338,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00907:Igsf3
|
APN |
3 |
101,334,764 (GRCm39) |
splice site |
probably benign |
|
|
IGL01321:Igsf3
|
APN |
3 |
101,334,338 (GRCm39) |
splice site |
probably benign |
|
|
IGL01340:Igsf3
|
APN |
3 |
101,346,995 (GRCm39) |
nonsense |
probably null |
|
|
IGL02291:Igsf3
|
APN |
3 |
101,346,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bunsen
|
UTSW |
3 |
101,358,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
residue
|
UTSW |
3 |
101,342,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
weaksister
|
UTSW |
3 |
101,358,393 (GRCm39) |
nonsense |
probably null |
|
|
PIT4402001:Igsf3
|
UTSW |
3 |
101,334,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0090:Igsf3
|
UTSW |
3 |
101,342,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Igsf3
|
UTSW |
3 |
101,342,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Igsf3
|
UTSW |
3 |
101,342,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0711:Igsf3
|
UTSW |
3 |
101,334,709 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1384:Igsf3
|
UTSW |
3 |
101,358,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1594:Igsf3
|
UTSW |
3 |
101,358,393 (GRCm39) |
nonsense |
probably null |
|
|
R1624:Igsf3
|
UTSW |
3 |
101,362,543 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1766:Igsf3
|
UTSW |
3 |
101,338,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Igsf3
|
UTSW |
3 |
101,338,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2072:Igsf3
|
UTSW |
3 |
101,346,831 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4707:Igsf3
|
UTSW |
3 |
101,365,410 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4976:Igsf3
|
UTSW |
3 |
101,346,677 (GRCm39) |
splice site |
probably null |
|
|
R5008:Igsf3
|
UTSW |
3 |
101,358,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5119:Igsf3
|
UTSW |
3 |
101,346,677 (GRCm39) |
splice site |
probably null |
|
|
R5189:Igsf3
|
UTSW |
3 |
101,338,843 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5456:Igsf3
|
UTSW |
3 |
101,334,537 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5776:Igsf3
|
UTSW |
3 |
101,332,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6112:Igsf3
|
UTSW |
3 |
101,358,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Igsf3
|
UTSW |
3 |
101,342,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6758:Igsf3
|
UTSW |
3 |
101,332,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7085:Igsf3
|
UTSW |
3 |
101,362,805 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7310:Igsf3
|
UTSW |
3 |
101,338,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7470:Igsf3
|
UTSW |
3 |
101,358,391 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7707:Igsf3
|
UTSW |
3 |
101,367,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7719:Igsf3
|
UTSW |
3 |
101,342,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7739:Igsf3
|
UTSW |
3 |
101,342,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Igsf3
|
UTSW |
3 |
101,362,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8128:Igsf3
|
UTSW |
3 |
101,346,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Igsf3
|
UTSW |
3 |
101,347,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Igsf3
|
UTSW |
3 |
101,334,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Igsf3
|
UTSW |
3 |
101,334,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9401:Igsf3
|
UTSW |
3 |
101,333,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Igsf3
|
UTSW |
3 |
101,358,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Igsf3
|
UTSW |
3 |
101,346,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Igsf3
|
UTSW |
3 |
101,346,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9575:Igsf3
|
UTSW |
3 |
101,338,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Igsf3
|
UTSW |
3 |
101,338,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0027:Igsf3
|
UTSW |
3 |
101,342,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATGTGGCTAGACCGGG -3'
(R):5'- TGGAAGATACTATCATGTCTAATCAGA -3'
Sequencing Primer
(F):5'- AGCTATGGAGGCATCCAG -3'
(R):5'- TCAAACTCAGAGCTCACTGGTGTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation