Incidental Mutation 'IGL01662:Sirpb1b'
ID |
103192 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sirpb1b
|
Ensembl Gene |
ENSMUSG00000095028 |
Gene Name |
signal-regulatory protein beta 1B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL01662
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
15560814-15640127 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 15608244 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 167
(T167K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091319]
[ENSMUST00000192382]
[ENSMUST00000195778]
|
AlphaFold |
A0A0A6YXN8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091319
AA Change: T167K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000088869 Gene: ENSMUSG00000095028 AA Change: T167K
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
23 |
N/A |
INTRINSIC |
IG
|
37 |
143 |
8.19e-9 |
SMART |
IGc1
|
163 |
236 |
1.22e-4 |
SMART |
IGc1
|
266 |
339 |
2.21e-5 |
SMART |
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192382
AA Change: T167K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142068 Gene: ENSMUSG00000095028 AA Change: T167K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
IG
|
37 |
143 |
3.3e-11 |
SMART |
IGc1
|
163 |
236 |
5.1e-7 |
SMART |
Pfam:C2-set_2
|
251 |
340 |
1e-4 |
PFAM |
Pfam:Ig_2
|
251 |
348 |
2.7e-1 |
PFAM |
Pfam:C1-set
|
258 |
341 |
1.3e-13 |
PFAM |
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194767
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195778
AA Change: T100K
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141533 Gene: ENSMUSG00000095028 AA Change: T100K
Domain | Start | End | E-Value | Type |
Pfam:Ig_2
|
14 |
66 |
5.6e-1 |
PFAM |
Pfam:Ig_3
|
22 |
52 |
7.8e-3 |
PFAM |
Pfam:V-set
|
24 |
75 |
1.9e-7 |
PFAM |
IGc1
|
96 |
169 |
5.1e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm5 |
A |
T |
7: 119,137,511 (GRCm39) |
I402F |
probably damaging |
Het |
Acvr2b |
T |
C |
9: 119,261,570 (GRCm39) |
Y388H |
probably damaging |
Het |
Adh1 |
G |
A |
3: 137,988,512 (GRCm39) |
D162N |
possibly damaging |
Het |
C6 |
G |
T |
15: 4,822,236 (GRCm39) |
R585I |
probably damaging |
Het |
Ccdc169 |
T |
A |
3: 55,070,732 (GRCm39) |
|
probably null |
Het |
Cdh13 |
T |
A |
8: 119,401,916 (GRCm39) |
M106K |
probably damaging |
Het |
Cep78 |
C |
T |
19: 15,938,359 (GRCm39) |
E530K |
probably damaging |
Het |
Cyfip1 |
T |
A |
7: 55,546,487 (GRCm39) |
L533Q |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,811,460 (GRCm39) |
V1181A |
probably benign |
Het |
Galnt7 |
T |
G |
8: 57,984,769 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,498 (GRCm39) |
R61C |
unknown |
Het |
Gucy1a1 |
T |
A |
3: 82,016,560 (GRCm39) |
I143F |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,613,050 (GRCm39) |
N1410D |
possibly damaging |
Het |
Ltbp2 |
G |
A |
12: 84,856,020 (GRCm39) |
T741I |
probably benign |
Het |
Mdc1 |
T |
C |
17: 36,163,397 (GRCm39) |
S982P |
probably benign |
Het |
Mfsd4b2 |
A |
G |
10: 39,798,193 (GRCm39) |
|
probably benign |
Het |
Mrgprb5 |
T |
G |
7: 47,818,172 (GRCm39) |
I188L |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,436,862 (GRCm39) |
S554C |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,220,957 (GRCm39) |
N1715D |
probably damaging |
Het |
Nav3 |
A |
T |
10: 109,605,119 (GRCm39) |
S985T |
possibly damaging |
Het |
Nme7 |
A |
G |
1: 164,155,866 (GRCm39) |
Q22R |
probably benign |
Het |
Or52i2 |
T |
C |
7: 102,319,927 (GRCm39) |
W267R |
probably damaging |
Het |
Otulinl |
C |
T |
15: 27,658,151 (GRCm39) |
D290N |
probably damaging |
Het |
Pabir1 |
A |
G |
19: 24,453,948 (GRCm39) |
V258A |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,115,322 (GRCm39) |
E815G |
probably damaging |
Het |
Ppp2r2c |
T |
A |
5: 37,083,744 (GRCm39) |
I95N |
probably damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,569,225 (GRCm39) |
E717K |
possibly damaging |
Het |
Prdm2 |
A |
G |
4: 142,860,138 (GRCm39) |
S1051P |
possibly damaging |
Het |
Rnf214 |
T |
C |
9: 45,811,084 (GRCm39) |
D193G |
probably damaging |
Het |
Slc16a3 |
C |
A |
11: 120,847,532 (GRCm39) |
S240* |
probably null |
Het |
Snx14 |
T |
A |
9: 88,267,891 (GRCm39) |
|
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,256,866 (GRCm39) |
|
probably benign |
Het |
Stk-ps2 |
A |
T |
1: 46,068,522 (GRCm39) |
|
noncoding transcript |
Het |
Taar7b |
A |
T |
10: 23,875,874 (GRCm39) |
D13V |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,066,506 (GRCm39) |
E740G |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,115,279 (GRCm39) |
A2054V |
possibly damaging |
Het |
Zfp106 |
A |
G |
2: 120,354,034 (GRCm39) |
V211A |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,825,379 (GRCm39) |
H449R |
probably benign |
Het |
|
Other mutations in Sirpb1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01384:Sirpb1b
|
APN |
3 |
15,613,789 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02025:Sirpb1b
|
APN |
3 |
15,613,863 (GRCm39) |
missense |
probably damaging |
0.99 |
F5770:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
probably benign |
0.25 |
R0419:Sirpb1b
|
UTSW |
3 |
15,613,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R1538:Sirpb1b
|
UTSW |
3 |
15,613,819 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3935:Sirpb1b
|
UTSW |
3 |
15,613,843 (GRCm39) |
missense |
probably benign |
0.05 |
R4300:Sirpb1b
|
UTSW |
3 |
15,613,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R4373:Sirpb1b
|
UTSW |
3 |
15,613,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Sirpb1b
|
UTSW |
3 |
15,613,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5425:Sirpb1b
|
UTSW |
3 |
15,613,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R6340:Sirpb1b
|
UTSW |
3 |
15,613,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R6357:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6723:Sirpb1b
|
UTSW |
3 |
15,613,858 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7152:Sirpb1b
|
UTSW |
3 |
15,607,230 (GRCm39) |
missense |
probably benign |
0.25 |
R7390:Sirpb1b
|
UTSW |
3 |
15,608,100 (GRCm39) |
nonsense |
probably null |
|
R7411:Sirpb1b
|
UTSW |
3 |
15,608,057 (GRCm39) |
missense |
probably benign |
0.22 |
R7513:Sirpb1b
|
UTSW |
3 |
15,607,200 (GRCm39) |
nonsense |
probably null |
|
R7526:Sirpb1b
|
UTSW |
3 |
15,613,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R8352:Sirpb1b
|
UTSW |
3 |
15,607,410 (GRCm39) |
missense |
probably benign |
0.03 |
R8452:Sirpb1b
|
UTSW |
3 |
15,607,410 (GRCm39) |
missense |
probably benign |
0.03 |
R8794:Sirpb1b
|
UTSW |
3 |
15,613,843 (GRCm39) |
missense |
probably benign |
0.05 |
R9165:Sirpb1b
|
UTSW |
3 |
15,639,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R9793:Sirpb1b
|
UTSW |
3 |
15,640,074 (GRCm39) |
unclassified |
probably benign |
|
V7583:Sirpb1b
|
UTSW |
3 |
15,568,243 (GRCm39) |
missense |
probably benign |
0.25 |
Z1177:Sirpb1b
|
UTSW |
3 |
15,640,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2014-01-21 |