Incidental Mutation 'R0828:Igsf9b'
ID |
78387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf9b
|
Ensembl Gene |
ENSMUSG00000034275 |
Gene Name |
immunoglobulin superfamily, member 9B |
Synonyms |
AI414108, LOC235086 |
MMRRC Submission |
039008-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.529)
|
Stock # |
R0828 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
27210500-27268842 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 27230901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 301
(Y301*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
AlphaFold |
E9PZ19 |
Predicted Effect |
probably null
Transcript: ENSMUST00000115247
AA Change: Y301*
|
SMART Domains |
Protein: ENSMUSP00000110902 Gene: ENSMUSG00000034275 AA Change: Y301*
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 |
probably null
Transcript: ENSMUST00000133213
AA Change: Y301*
|
SMART Domains |
Protein: ENSMUSP00000117017 Gene: ENSMUSG00000034275 AA Change: Y301*
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 null
Transcript: ENSMUST00000214357
AA Change: Y301*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
C |
T |
11: 25,602,020 (GRCm39) |
C70Y |
unknown |
Het |
Abi3bp |
C |
T |
16: 56,498,193 (GRCm39) |
T929I |
probably damaging |
Het |
Adap2 |
C |
A |
11: 80,056,490 (GRCm39) |
|
probably benign |
Het |
Adgrg5 |
A |
G |
8: 95,668,413 (GRCm39) |
|
probably null |
Het |
Afdn |
C |
A |
17: 14,124,260 (GRCm39) |
N1803K |
probably damaging |
Het |
Alox12b |
T |
C |
11: 69,057,132 (GRCm39) |
L451P |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,510,434 (GRCm39) |
|
probably benign |
Het |
Bcr |
A |
T |
10: 74,993,039 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,734,347 (GRCm39) |
N300D |
probably benign |
Het |
Camsap1 |
G |
T |
2: 25,829,097 (GRCm39) |
Q876K |
probably damaging |
Het |
Cdh10 |
A |
G |
15: 18,986,837 (GRCm39) |
D356G |
possibly damaging |
Het |
Cdipt |
T |
A |
7: 126,576,092 (GRCm39) |
Y16N |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,233,411 (GRCm39) |
E772G |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,828,992 (GRCm39) |
I304T |
probably benign |
Het |
Chpt1 |
C |
A |
10: 88,312,277 (GRCm39) |
G9V |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,739,263 (GRCm39) |
|
probably null |
Het |
Dock7 |
G |
T |
4: 98,903,982 (GRCm39) |
P688T |
probably damaging |
Het |
Ephb3 |
T |
A |
16: 21,037,784 (GRCm39) |
|
probably benign |
Het |
Fcgr2b |
T |
C |
1: 170,788,599 (GRCm39) |
Y336C |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,110,639 (GRCm39) |
H889L |
unknown |
Het |
Gucy2c |
C |
T |
6: 136,686,746 (GRCm39) |
V806M |
probably damaging |
Het |
Hmgxb3 |
T |
A |
18: 61,304,426 (GRCm39) |
I55F |
probably damaging |
Het |
Il12rb2 |
C |
T |
6: 67,333,691 (GRCm39) |
R196H |
probably benign |
Het |
Itgam |
T |
C |
7: 127,715,677 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,515,943 (GRCm39) |
V283A |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,320,135 (GRCm39) |
L423P |
probably damaging |
Het |
Krt6a |
T |
C |
15: 101,602,271 (GRCm39) |
N138S |
probably damaging |
Het |
Lrba |
A |
T |
3: 86,515,677 (GRCm39) |
|
probably null |
Het |
Map4k5 |
T |
C |
12: 69,852,100 (GRCm39) |
T828A |
probably damaging |
Het |
Marchf8 |
T |
A |
6: 116,382,639 (GRCm39) |
M434K |
probably benign |
Het |
Mink1 |
C |
T |
11: 70,500,971 (GRCm39) |
Q743* |
probably null |
Het |
Mrgpra3 |
T |
C |
7: 47,239,884 (GRCm39) |
N14S |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,557,073 (GRCm39) |
S808G |
probably damaging |
Het |
Msi1 |
T |
C |
5: 115,568,953 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
G |
19: 56,333,990 (GRCm39) |
Y874H |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,171,501 (GRCm39) |
F455L |
probably benign |
Het |
Or2t1 |
G |
T |
14: 14,328,800 (GRCm38) |
V230L |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,613,466 (GRCm39) |
V894A |
probably damaging |
Het |
Polr1c |
A |
G |
17: 46,555,990 (GRCm39) |
S173P |
probably damaging |
Het |
Pphln1-ps1 |
A |
G |
16: 13,495,669 (GRCm39) |
Y256C |
probably damaging |
Het |
Prep |
C |
T |
10: 45,031,621 (GRCm39) |
A564V |
probably benign |
Het |
Rab3gap1 |
T |
C |
1: 127,865,922 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
G |
C |
4: 132,063,136 (GRCm39) |
|
probably benign |
Het |
Scn11a |
T |
A |
9: 119,584,073 (GRCm39) |
D1514V |
probably benign |
Het |
Setdb1 |
G |
A |
3: 95,246,171 (GRCm39) |
P584S |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,936,771 (GRCm39) |
I144V |
probably benign |
Het |
Slc45a4 |
T |
C |
15: 73,458,665 (GRCm39) |
M295V |
probably benign |
Het |
Slco1a1 |
T |
A |
6: 141,867,565 (GRCm39) |
D456V |
possibly damaging |
Het |
Sspo |
G |
T |
6: 48,475,668 (GRCm39) |
C4928F |
probably damaging |
Het |
St6galnac1 |
T |
A |
11: 116,659,823 (GRCm39) |
K163N |
probably benign |
Het |
Tcp11l1 |
A |
T |
2: 104,530,181 (GRCm39) |
|
probably benign |
Het |
Tns1 |
T |
A |
1: 73,958,825 (GRCm39) |
I1715F |
probably damaging |
Het |
Trpa1 |
C |
T |
1: 14,946,108 (GRCm39) |
V1008M |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,371,312 (GRCm39) |
E587G |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,177,864 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp8 |
G |
A |
2: 126,584,034 (GRCm39) |
|
probably benign |
Het |
Zfc3h1 |
G |
T |
10: 115,237,612 (GRCm39) |
A464S |
possibly damaging |
Het |
Zfp106 |
T |
C |
2: 120,366,084 (GRCm39) |
I108V |
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 |
|
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 |
|
R7180:Igsf9b
|
UTSW |
9 |
27,233,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- TACTTCCAGAAGTGAGCAGCACCC -3'
(R):5'- TGGCTAACACCCAGTGATGACCAG -3'
Sequencing Primer
(F):5'- TGGCAGTGCCTGGGAAC -3'
(R):5'- ACAGATCTCTGCCGCTGAC -3'
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Posted On |
2013-10-16 |