Incidental Mutation 'R9575:Igsf3'
| ID |
722234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf3
|
| Ensembl Gene |
ENSMUSG00000042035 |
| Gene Name |
immunoglobulin superfamily, member 3 |
| Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R9575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101338625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 313
(Y313C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043983]
[ENSMUST00000195164]
|
| AlphaFold |
Q6ZQA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043983
AA Change: Y313C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: Y313C
| 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 damaging
Transcript: ENSMUST00000195164
AA Change: Y313C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: Y313C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galt4 |
T |
C |
16: 38,583,513 (GRCm39) |
Y253H |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,935,231 (GRCm39) |
R15G |
unknown |
Het |
| Cep350 |
G |
A |
1: 155,751,113 (GRCm39) |
P2020S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,838,754 (GRCm39) |
M857K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,152,314 (GRCm39) |
D923E |
possibly damaging |
Het |
| Fastk |
A |
G |
5: 24,650,067 (GRCm39) |
S27P |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,454,399 (GRCm39) |
H1937R |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,906 (GRCm39) |
W132R |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,082 (GRCm39) |
I348T |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,704,708 (GRCm39) |
H515Q |
probably damaging |
Het |
| Mbtd1 |
G |
A |
11: 93,799,764 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,190 (GRCm39) |
S2130P |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,840 (GRCm39) |
C87S |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,925,211 (GRCm39) |
F149I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,363,285 (GRCm39) |
T165A |
probably benign |
Het |
| Potefam3b |
A |
T |
8: 21,159,090 (GRCm39) |
D148V |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,101 (GRCm39) |
I425T |
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,714,603 (GRCm39) |
S175P |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,127 (GRCm39) |
G882S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,962,409 (GRCm39) |
I356M |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,596,672 (GRCm39) |
L1459Q |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,796 (GRCm39) |
F2264I |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,735 (GRCm39) |
N510S |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,288 (GRCm39) |
C111S |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,303 (GRCm39) |
C301S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,041 (GRCm39) |
T600A |
unknown |
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 |
|
|
R4982:Igsf3
|
UTSW |
3 |
101,342,983 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
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'- AAGCAGTTTGGTAGGTTGCAGC -3'
(R):5'- TGAACTCGCCAGTGACAGTC -3'
Sequencing Primer
(F):5'- GCAGCTCTTATTTGCCCAGAATG -3'
(R):5'- CAGTCACCCGGCAGTTGTATTTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation