Incidental Mutation 'R7180:Igsf9b'
ID |
558923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf9b
|
Ensembl Gene |
ENSMUSG00000034275 |
Gene Name |
immunoglobulin superfamily, member 9B |
Synonyms |
AI414108, LOC235086 |
MMRRC Submission |
045233-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.453)
|
Stock # |
R7180 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27233964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 388
(T388S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110902
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
AlphaFold |
E9PZ19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115247
AA Change: T388S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110902 Gene: ENSMUSG00000034275 AA Change: T388S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
30 |
134 |
9.41e-9 |
SMART |
IGc2
|
152 |
215 |
1.82e-15 |
SMART |
FN3
|
232 |
302 |
7.02e1 |
SMART |
IGc2
|
241 |
310 |
3.01e-7 |
SMART |
IG
|
331 |
417 |
2.79e-2 |
SMART |
IGc2
|
433 |
495 |
5.48e-10 |
SMART |
FN3
|
510 |
591 |
1.35e-7 |
SMART |
FN3
|
615 |
695 |
3.08e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133213
AA Change: T388S
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117017 Gene: ENSMUSG00000034275 AA Change: T388S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
30 |
134 |
9.41e-9 |
SMART |
IGc2
|
152 |
215 |
1.82e-15 |
SMART |
FN3
|
232 |
302 |
7.02e1 |
SMART |
IGc2
|
241 |
310 |
3.01e-7 |
SMART |
IG
|
331 |
417 |
2.79e-2 |
SMART |
IGc2
|
433 |
495 |
5.48e-10 |
SMART |
FN3
|
510 |
591 |
1.35e-7 |
SMART |
FN3
|
615 |
695 |
3.08e-2 |
SMART |
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
low complexity region
|
750 |
760 |
N/A |
INTRINSIC |
low complexity region
|
835 |
843 |
N/A |
INTRINSIC |
low complexity region
|
971 |
982 |
N/A |
INTRINSIC |
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
low complexity region
|
1148 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1172 |
1190 |
N/A |
INTRINSIC |
low complexity region
|
1246 |
1273 |
N/A |
INTRINSIC |
low complexity region
|
1284 |
1296 |
N/A |
INTRINSIC |
low complexity region
|
1313 |
1326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214357
AA Change: T388S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
A |
C |
4: 49,381,803 (GRCm39) |
Y196* |
probably null |
Het |
Agrn |
C |
T |
4: 156,256,296 (GRCm39) |
R1405H |
probably benign |
Het |
Agtpbp1 |
G |
A |
13: 59,613,852 (GRCm39) |
H1030Y |
probably benign |
Het |
Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
G |
C |
14: 55,341,908 (GRCm39) |
P218R |
probably damaging |
Het |
Ap2a1 |
C |
T |
7: 44,573,228 (GRCm39) |
|
probably null |
Het |
Apc2 |
T |
A |
10: 80,146,990 (GRCm39) |
D681E |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,252,142 (GRCm39) |
N964K |
possibly damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
Ccnf |
T |
A |
17: 24,442,889 (GRCm39) |
M773L |
probably benign |
Het |
Ces1e |
A |
C |
8: 93,941,772 (GRCm39) |
S234A |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,029,576 (GRCm39) |
E552V |
probably benign |
Het |
Ctcfl |
A |
T |
2: 172,947,770 (GRCm39) |
|
probably null |
Het |
Dkk2 |
T |
A |
3: 131,791,953 (GRCm39) |
S54T |
probably damaging |
Het |
Dll1 |
A |
G |
17: 15,595,131 (GRCm39) |
S49P |
probably benign |
Het |
Dscam |
C |
A |
16: 96,626,764 (GRCm39) |
A382S |
probably damaging |
Het |
Eif4a3l1 |
T |
A |
6: 136,306,535 (GRCm39) |
I332N |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,088,155 (GRCm39) |
M1020L |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,796,535 (GRCm39) |
S118R |
probably damaging |
Het |
Enpp4 |
T |
C |
17: 44,412,928 (GRCm39) |
D202G |
probably benign |
Het |
Eps8 |
A |
T |
6: 137,456,072 (GRCm39) |
I803N |
possibly damaging |
Het |
Etv2 |
C |
A |
7: 30,335,074 (GRCm39) |
G28V |
probably damaging |
Het |
Fadd |
A |
T |
7: 144,134,522 (GRCm39) |
V121E |
probably damaging |
Het |
Fam149b |
T |
C |
14: 20,431,853 (GRCm39) |
Y545H |
probably benign |
Het |
Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,110,140 (GRCm39) |
S723P |
unknown |
Het |
Gm4884 |
C |
T |
7: 40,693,633 (GRCm39) |
T534I |
possibly damaging |
Het |
Gpbar1 |
A |
T |
1: 74,317,792 (GRCm39) |
I12F |
possibly damaging |
Het |
Gpr151 |
A |
T |
18: 42,712,021 (GRCm39) |
L219* |
probably null |
Het |
Hdgfl2 |
T |
A |
17: 56,404,532 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,446,405 (GRCm39) |
M200V |
probably benign |
Het |
Idua |
A |
G |
5: 108,828,761 (GRCm39) |
N335S |
probably benign |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,302 (GRCm39) |
F385Y |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,411,606 (GRCm39) |
D1624G |
probably damaging |
Het |
Insyn2b |
A |
G |
11: 34,369,873 (GRCm39) |
K526E |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,259,811 (GRCm39) |
I237V |
probably benign |
Het |
Kat5 |
C |
A |
19: 5,653,989 (GRCm39) |
K398N |
probably damaging |
Het |
Lmbrd2 |
T |
A |
15: 9,175,283 (GRCm39) |
V398E |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,392,834 (GRCm39) |
N2744D |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,901,459 (GRCm39) |
I588T |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,215,382 (GRCm39) |
F418L |
probably damaging |
Het |
Magi1 |
T |
A |
6: 93,792,731 (GRCm39) |
D169V |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,253,988 (GRCm39) |
E1048G |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,692,110 (GRCm39) |
I150V |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,337,236 (GRCm39) |
M1006K |
probably benign |
Het |
Nkain1 |
C |
T |
4: 130,533,925 (GRCm38) |
V132I |
probably benign |
Het |
Npy6r |
A |
T |
18: 44,409,223 (GRCm39) |
M215L |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,635,592 (GRCm39) |
Q231L |
probably damaging |
Het |
Obox5 |
C |
T |
7: 15,491,849 (GRCm39) |
P88L |
probably benign |
Het |
Or10a48 |
A |
G |
7: 108,425,186 (GRCm39) |
S7P |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,811 (GRCm39) |
T63A |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,376,209 (GRCm39) |
S1309C |
probably damaging |
Het |
Pex5l |
C |
T |
3: 33,078,840 (GRCm39) |
|
probably null |
Het |
Pip |
T |
A |
6: 41,824,565 (GRCm39) |
C18S |
probably damaging |
Het |
Pla2g7 |
C |
T |
17: 43,909,967 (GRCm39) |
T157M |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,768,229 (GRCm39) |
Y2168C |
probably damaging |
Het |
Rgs2 |
T |
C |
1: 143,877,886 (GRCm39) |
T137A |
probably benign |
Het |
Rpl32 |
T |
A |
6: 115,784,768 (GRCm39) |
I31F |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,701,864 (GRCm39) |
Y2931C |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,194,095 (GRCm39) |
E192K |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,765,580 (GRCm38) |
A521T |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,701,818 (GRCm39) |
E1058G |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,939,600 (GRCm39) |
T679A |
probably benign |
Het |
Tas2r130 |
A |
C |
6: 131,607,211 (GRCm39) |
S195A |
probably benign |
Het |
Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
Terf2ip |
G |
T |
8: 112,738,052 (GRCm39) |
|
probably benign |
Het |
Tm6sf2 |
G |
A |
8: 70,528,656 (GRCm39) |
R136K |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,764,886 (GRCm39) |
L858P |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,770 (GRCm39) |
D1466G |
possibly damaging |
Het |
Trip4 |
A |
T |
9: 65,764,627 (GRCm39) |
L446Q |
probably damaging |
Het |
Trpv3 |
G |
T |
11: 73,168,818 (GRCm39) |
V93L |
probably benign |
Het |
Ubl4b |
A |
T |
3: 107,461,962 (GRCm39) |
H99Q |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,979,569 (GRCm39) |
|
probably null |
Het |
Vmn1r47 |
G |
T |
6: 89,999,335 (GRCm39) |
A156S |
probably damaging |
Het |
Vmn2r33 |
T |
A |
7: 7,566,896 (GRCm39) |
H72L |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
Zfp628 |
C |
A |
7: 4,924,063 (GRCm39) |
Q762K |
probably benign |
Het |
|
Other mutations in Igsf9b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Igsf9b
|
APN |
9 |
27,230,951 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01013:Igsf9b
|
APN |
9 |
27,245,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01960:Igsf9b
|
APN |
9 |
27,239,902 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02398:Igsf9b
|
APN |
9 |
27,244,426 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL03007:Igsf9b
|
APN |
9 |
27,244,378 (GRCm39) |
missense |
probably damaging |
0.98 |
G1Funyon:Igsf9b
|
UTSW |
9 |
27,246,035 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03014:Igsf9b
|
UTSW |
9 |
27,233,932 (GRCm39) |
missense |
probably benign |
0.00 |
R0127:Igsf9b
|
UTSW |
9 |
27,245,681 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0376:Igsf9b
|
UTSW |
9 |
27,245,878 (GRCm39) |
missense |
probably benign |
0.01 |
R0520:Igsf9b
|
UTSW |
9 |
27,234,546 (GRCm39) |
missense |
probably benign |
0.00 |
R0534:Igsf9b
|
UTSW |
9 |
27,244,358 (GRCm39) |
splice site |
probably null |
|
R0613:Igsf9b
|
UTSW |
9 |
27,238,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0718:Igsf9b
|
UTSW |
9 |
27,234,657 (GRCm39) |
critical splice donor site |
probably null |
|
R0828:Igsf9b
|
UTSW |
9 |
27,230,901 (GRCm39) |
nonsense |
probably null |
|
R0879:Igsf9b
|
UTSW |
9 |
27,245,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R0882:Igsf9b
|
UTSW |
9 |
27,230,612 (GRCm39) |
missense |
probably damaging |
0.98 |
R0987:Igsf9b
|
UTSW |
9 |
27,243,849 (GRCm39) |
splice site |
probably null |
|
R1162:Igsf9b
|
UTSW |
9 |
27,238,185 (GRCm39) |
missense |
probably benign |
|
R1758:Igsf9b
|
UTSW |
9 |
27,245,548 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1760:Igsf9b
|
UTSW |
9 |
27,229,123 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1819:Igsf9b
|
UTSW |
9 |
27,222,889 (GRCm39) |
missense |
probably damaging |
0.98 |
R1823:Igsf9b
|
UTSW |
9 |
27,243,028 (GRCm39) |
missense |
probably damaging |
0.96 |
R1982:Igsf9b
|
UTSW |
9 |
27,233,535 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2150:Igsf9b
|
UTSW |
9 |
27,245,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R2228:Igsf9b
|
UTSW |
9 |
27,244,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Igsf9b
|
UTSW |
9 |
27,244,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R2250:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2872:Igsf9b
|
UTSW |
9 |
27,233,519 (GRCm39) |
missense |
probably benign |
0.11 |
R2872:Igsf9b
|
UTSW |
9 |
27,233,519 (GRCm39) |
missense |
probably benign |
0.11 |
R3415:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3416:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3417:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3427:Igsf9b
|
UTSW |
9 |
27,245,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R4356:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4357:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4358:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4359:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4379:Igsf9b
|
UTSW |
9 |
27,220,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4416:Igsf9b
|
UTSW |
9 |
27,234,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R4445:Igsf9b
|
UTSW |
9 |
27,245,548 (GRCm39) |
missense |
probably benign |
0.13 |
R4446:Igsf9b
|
UTSW |
9 |
27,245,548 (GRCm39) |
missense |
probably benign |
0.13 |
R4787:Igsf9b
|
UTSW |
9 |
27,228,752 (GRCm39) |
missense |
probably benign |
0.26 |
R4887:Igsf9b
|
UTSW |
9 |
27,233,946 (GRCm39) |
missense |
probably benign |
0.45 |
R5085:Igsf9b
|
UTSW |
9 |
27,228,733 (GRCm39) |
missense |
probably benign |
0.03 |
R5360:Igsf9b
|
UTSW |
9 |
27,222,968 (GRCm39) |
missense |
probably damaging |
0.98 |
R5417:Igsf9b
|
UTSW |
9 |
27,245,572 (GRCm39) |
small insertion |
probably benign |
|
R5686:Igsf9b
|
UTSW |
9 |
27,235,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R5738:Igsf9b
|
UTSW |
9 |
27,239,826 (GRCm39) |
missense |
probably damaging |
0.98 |
R5869:Igsf9b
|
UTSW |
9 |
27,234,531 (GRCm39) |
missense |
probably benign |
0.44 |
R6304:Igsf9b
|
UTSW |
9 |
27,253,871 (GRCm39) |
missense |
probably benign |
0.19 |
R6359:Igsf9b
|
UTSW |
9 |
27,220,895 (GRCm39) |
missense |
probably benign |
0.25 |
R6367:Igsf9b
|
UTSW |
9 |
27,220,821 (GRCm39) |
nonsense |
probably null |
|
R6556:Igsf9b
|
UTSW |
9 |
27,240,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R7058:Igsf9b
|
UTSW |
9 |
27,234,150 (GRCm39) |
missense |
probably damaging |
0.99 |
R7165:Igsf9b
|
UTSW |
9 |
27,245,536 (GRCm39) |
missense |
probably benign |
|
R7212:Igsf9b
|
UTSW |
9 |
27,242,992 (GRCm39) |
missense |
probably damaging |
0.98 |
R7461:Igsf9b
|
UTSW |
9 |
27,245,418 (GRCm39) |
missense |
probably benign |
0.10 |
R7605:Igsf9b
|
UTSW |
9 |
27,234,608 (GRCm39) |
missense |
probably damaging |
0.98 |
R7609:Igsf9b
|
UTSW |
9 |
27,257,186 (GRCm39) |
missense |
probably benign |
|
R7613:Igsf9b
|
UTSW |
9 |
27,245,418 (GRCm39) |
missense |
probably benign |
0.10 |
R8072:Igsf9b
|
UTSW |
9 |
27,228,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8163:Igsf9b
|
UTSW |
9 |
27,233,907 (GRCm39) |
splice site |
probably null |
|
R8301:Igsf9b
|
UTSW |
9 |
27,246,035 (GRCm39) |
utr 3 prime |
probably benign |
|
R8546:Igsf9b
|
UTSW |
9 |
27,244,426 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8553:Igsf9b
|
UTSW |
9 |
27,244,739 (GRCm39) |
missense |
probably damaging |
0.96 |
R9438:Igsf9b
|
UTSW |
9 |
27,243,839 (GRCm39) |
missense |
probably benign |
0.03 |
R9585:Igsf9b
|
UTSW |
9 |
27,233,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R9720:Igsf9b
|
UTSW |
9 |
27,220,810 (GRCm39) |
missense |
probably damaging |
0.99 |
X0013:Igsf9b
|
UTSW |
9 |
27,243,021 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0025:Igsf9b
|
UTSW |
9 |
27,220,757 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Igsf9b
|
UTSW |
9 |
27,245,668 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Igsf9b
|
UTSW |
9 |
27,228,649 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Igsf9b
|
UTSW |
9 |
27,245,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACGATCTGGCAGGAGTTTG -3'
(R):5'- GTCCTAATGGAAGCACAGAGAC -3'
Sequencing Primer
(F):5'- TGTGCTCCATGCCCACTGG -3'
(R):5'- ACAGGTATAAAAGGTTGGCCAC -3'
|
Posted On |
2019-06-26 |