Incidental Mutation 'R8128:Igsf3'
| ID |
631840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf3
|
| Ensembl Gene |
ENSMUSG00000042035 |
| Gene Name |
immunoglobulin superfamily, member 3 |
| Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
| MMRRC Submission |
067557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R8128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101346947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 627
(N627K)
|
| 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: N627K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048900
Gene: ENSMUSG00000042035
AA Change: N627K
| 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: N647K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141823
Gene: ENSMUSG00000042035
AA Change: N647K
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (42/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,008,395 (GRCm39) |
R1188G |
probably damaging |
Het |
| Abcc5 |
G |
A |
16: 20,184,473 (GRCm39) |
R1036C |
probably damaging |
Het |
| Arhgap22 |
T |
A |
14: 33,089,042 (GRCm39) |
F508I |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,163,216 (GRCm39) |
Q505* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,916,253 (GRCm39) |
L1723Q |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,784,940 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
C |
A |
5: 5,646,034 (GRCm39) |
M555I |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,676,691 (GRCm39) |
A773T |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,963,129 (GRCm39) |
V15A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,789 (GRCm39) |
R206G |
unknown |
Het |
| Dscam |
C |
A |
16: 96,602,374 (GRCm39) |
|
probably null |
Het |
| Eif3k |
A |
T |
7: 28,679,742 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
G |
T |
11: 61,413,321 (GRCm39) |
|
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,568 (GRCm39) |
D215G |
probably benign |
Het |
| Foxa3 |
A |
T |
7: 18,757,341 (GRCm39) |
M1K |
probably null |
Het |
| Glyctk |
T |
C |
9: 106,032,501 (GRCm39) |
H504R |
probably benign |
Het |
| Grin3b |
T |
C |
10: 79,812,944 (GRCm39) |
L394P |
|
Het |
| Hgh1 |
A |
G |
15: 76,254,581 (GRCm39) |
Y319C |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,117,622 (GRCm39) |
T635A |
probably benign |
Het |
| Lmtk3 |
G |
T |
7: 45,443,598 (GRCm39) |
M760I |
|
Het |
| Lrp1b |
G |
A |
2: 41,159,248 (GRCm39) |
A1678V |
probably null |
Het |
| Lrrc8c |
A |
T |
5: 105,755,488 (GRCm39) |
N421I |
probably damaging |
Het |
| Mfsd13b |
C |
A |
7: 120,590,495 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,673 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p50 |
A |
C |
7: 107,422,632 (GRCm39) |
F15V |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,234 (GRCm39) |
T426A |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,449 (GRCm39) |
I500F |
possibly damaging |
Het |
| Polr3gl |
T |
A |
3: 96,487,824 (GRCm39) |
|
probably null |
Het |
| Psmg3 |
A |
G |
5: 139,809,788 (GRCm39) |
V86A |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,977,099 (GRCm39) |
V102E |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,032 (GRCm39) |
|
probably null |
Het |
| Scand1 |
T |
C |
2: 156,153,961 (GRCm39) |
D103G |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,850,383 (GRCm39) |
I70T |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 73,934,049 (GRCm39) |
S708T |
probably damaging |
Het |
| Sprr2d |
G |
A |
3: 92,247,760 (GRCm39) |
C67Y |
unknown |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Trafd1 |
G |
T |
5: 121,510,465 (GRCm39) |
P567Q |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,531,682 (GRCm39) |
N80D |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,113 (GRCm39) |
L293S |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,747 (GRCm39) |
M272K |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,954,155 (GRCm39) |
L773Q |
probably damaging |
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 |
|
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'- TGCAGTGCATCATCAAACCC -3'
(R):5'- CCTTACTATGCTGTGCAGACAC -3'
Sequencing Primer
(F):5'- CCACTACCCGGCCAGAGTC -3'
(R):5'- TGCAGACACACATGGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation