Incidental Mutation 'IGL02156:Sptbn5'
| ID |
282239 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sptbn5
|
| Ensembl Gene |
ENSMUSG00000074899 |
| Gene Name |
spectrin beta, non-erythrocytic 5 |
| Synonyms |
Spnb5, EG640524 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
IGL02156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 119878098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129685]
[ENSMUST00000162393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129685
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
1012 |
1.99e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156159
|
| SMART Domains |
Protein: ENSMUSP00000115974
Gene: ENSMUSG00000074899
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
60 |
160 |
2.54e-6 |
SMART |
|
SPEC
|
166 |
266 |
1.32e-13 |
SMART |
|
SPEC
|
272 |
372 |
4.41e-15 |
SMART |
|
SPEC
|
378 |
477 |
1.56e-15 |
SMART |
|
SPEC
|
483 |
583 |
1.11e-11 |
SMART |
|
SPEC
|
589 |
689 |
8.47e-26 |
SMART |
|
SPEC
|
695 |
795 |
5.56e-12 |
SMART |
|
SPEC
|
801 |
902 |
7.01e-9 |
SMART |
|
SPEC
|
908 |
1032 |
4.44e-1 |
SMART |
|
SPEC
|
1038 |
1138 |
3.73e-13 |
SMART |
|
Pfam:Spectrin
|
1141 |
1206 |
2.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162393
|
| SMART Domains |
Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
242 |
4.42e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,566 (GRCm39) |
|
noncoding transcript |
Het |
| Adam33 |
G |
A |
2: 130,895,078 (GRCm39) |
|
probably benign |
Het |
| Akr7a5 |
C |
A |
4: 139,041,580 (GRCm39) |
A163D |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,037,937 (GRCm39) |
|
probably benign |
Het |
| Asf1a |
C |
T |
10: 53,482,239 (GRCm39) |
A17V |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,085,529 (GRCm39) |
S25T |
probably benign |
Het |
| Cbln4 |
T |
C |
2: 171,884,128 (GRCm39) |
I31V |
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,376,005 (GRCm39) |
L172R |
possibly damaging |
Het |
| Ceacam9 |
T |
C |
7: 16,457,544 (GRCm39) |
|
probably benign |
Het |
| Crhr1 |
C |
A |
11: 104,054,709 (GRCm39) |
N107K |
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,707,646 (GRCm39) |
M488L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,458,882 (GRCm39) |
V3752A |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,370,951 (GRCm39) |
V4744M |
probably damaging |
Het |
| Dstyk |
C |
A |
1: 132,377,664 (GRCm39) |
N423K |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,286,941 (GRCm39) |
S1341P |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,401,527 (GRCm39) |
H409R |
probably benign |
Het |
| Fbxo21 |
A |
G |
5: 118,132,733 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,618,551 (GRCm39) |
I230T |
probably damaging |
Het |
| Gm9931 |
T |
C |
1: 147,157,366 (GRCm39) |
|
noncoding transcript |
Het |
| Grk6 |
T |
C |
13: 55,597,174 (GRCm39) |
F36L |
possibly damaging |
Het |
| Grm1 |
G |
T |
10: 10,595,720 (GRCm39) |
A636D |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,800,916 (GRCm39) |
|
probably benign |
Het |
| Hltf |
G |
A |
3: 20,146,971 (GRCm39) |
V577I |
possibly damaging |
Het |
| Hrob |
C |
T |
11: 102,145,865 (GRCm39) |
S47F |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,359 (GRCm39) |
D378G |
probably damaging |
Het |
| Mcoln1 |
C |
A |
8: 3,562,657 (GRCm39) |
S6* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,961,292 (GRCm39) |
S194T |
probably benign |
Het |
| Myo1h |
A |
C |
5: 114,491,972 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
A |
14: 55,990,740 (GRCm39) |
C557* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,309,432 (GRCm39) |
D1619G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,893,842 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,361 (GRCm39) |
H228Q |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,494 (GRCm39) |
M59T |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 61,807,109 (GRCm39) |
D41E |
possibly damaging |
Het |
| Parp14 |
G |
T |
16: 35,678,967 (GRCm39) |
Q334K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,847,859 (GRCm39) |
I1228K |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,965,799 (GRCm39) |
F814I |
probably benign |
Het |
| Prr5 |
A |
G |
15: 84,654,236 (GRCm39) |
I306V |
possibly damaging |
Het |
| Rsph1 |
T |
G |
17: 31,477,090 (GRCm39) |
S282R |
probably benign |
Het |
| Son |
T |
C |
16: 91,452,992 (GRCm39) |
S580P |
possibly damaging |
Het |
| Ssr2 |
T |
A |
3: 88,491,095 (GRCm39) |
|
probably null |
Het |
| Tfpt |
A |
G |
7: 3,632,039 (GRCm39) |
S24P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,577,197 (GRCm39) |
T1507A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,641,163 (GRCm39) |
|
probably benign |
Het |
| Wwox |
G |
A |
8: 115,174,899 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
C |
T |
4: 131,931,819 (GRCm39) |
R447H |
possibly damaging |
Het |
| Zfp385c |
A |
G |
11: 100,519,845 (GRCm39) |
F368S |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zhx1 |
A |
C |
15: 57,917,445 (GRCm39) |
V267G |
possibly damaging |
Het |
|
| Other mutations in Sptbn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Sptbn5
|
APN |
2 |
119,884,948 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01552:Sptbn5
|
APN |
2 |
119,884,903 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01800:Sptbn5
|
APN |
2 |
119,886,908 (GRCm39) |
unclassified |
probably benign |
|
|
R0020:Sptbn5
|
UTSW |
2 |
119,896,112 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0690:Sptbn5
|
UTSW |
2 |
119,893,156 (GRCm39) |
splice site |
probably null |
|
|
R1121:Sptbn5
|
UTSW |
2 |
119,899,871 (GRCm39) |
splice site |
probably null |
|
|
R1223:Sptbn5
|
UTSW |
2 |
119,902,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1405:Sptbn5
|
UTSW |
2 |
119,881,097 (GRCm39) |
splice site |
noncoding transcript |
|
|
R1852:Sptbn5
|
UTSW |
2 |
119,902,125 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1927:Sptbn5
|
UTSW |
2 |
119,900,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2570:Sptbn5
|
UTSW |
2 |
119,879,121 (GRCm39) |
exon |
noncoding transcript |
|
|
R3898:Sptbn5
|
UTSW |
2 |
119,887,691 (GRCm39) |
exon |
noncoding transcript |
|
|
R3976:Sptbn5
|
UTSW |
2 |
119,878,742 (GRCm39) |
splice site |
noncoding transcript |
|
|
R4092:Sptbn5
|
UTSW |
2 |
119,897,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4119:Sptbn5
|
UTSW |
2 |
119,895,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4120:Sptbn5
|
UTSW |
2 |
119,895,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4351:Sptbn5
|
UTSW |
2 |
119,913,680 (GRCm39) |
exon |
noncoding transcript |
|
|
R4352:Sptbn5
|
UTSW |
2 |
119,913,680 (GRCm39) |
exon |
noncoding transcript |
|
|
R4364:Sptbn5
|
UTSW |
2 |
119,899,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Sptbn5
|
UTSW |
2 |
119,896,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Sptbn5
|
UTSW |
2 |
119,897,927 (GRCm39) |
splice site |
probably null |
|
|
R4616:Sptbn5
|
UTSW |
2 |
119,879,238 (GRCm39) |
exon |
noncoding transcript |
|
|
R4687:Sptbn5
|
UTSW |
2 |
119,907,689 (GRCm39) |
unclassified |
probably benign |
|
|
R4693:Sptbn5
|
UTSW |
2 |
119,889,897 (GRCm39) |
unclassified |
probably benign |
|
|
R4762:Sptbn5
|
UTSW |
2 |
119,907,703 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R4798:Sptbn5
|
UTSW |
2 |
119,889,622 (GRCm39) |
unclassified |
probably benign |
|
|
R4818:Sptbn5
|
UTSW |
2 |
119,898,449 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4822:Sptbn5
|
UTSW |
2 |
119,898,449 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4825:Sptbn5
|
UTSW |
2 |
119,886,374 (GRCm39) |
unclassified |
probably benign |
|
|
R4933:Sptbn5
|
UTSW |
2 |
119,880,601 (GRCm39) |
exon |
noncoding transcript |
|
|
R4970:Sptbn5
|
UTSW |
2 |
119,882,258 (GRCm39) |
exon |
noncoding transcript |
|
|
R5141:Sptbn5
|
UTSW |
2 |
119,892,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5209:Sptbn5
|
UTSW |
2 |
119,902,483 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5225:Sptbn5
|
UTSW |
2 |
119,915,812 (GRCm39) |
unclassified |
probably benign |
|
|
R5227:Sptbn5
|
UTSW |
2 |
119,915,812 (GRCm39) |
unclassified |
probably benign |
|
|
R5421:Sptbn5
|
UTSW |
2 |
119,911,261 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
R5495:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
|
R5498:Sptbn5
|
UTSW |
2 |
119,907,119 (GRCm39) |
unclassified |
probably benign |
|
|
R5511:Sptbn5
|
UTSW |
2 |
119,890,202 (GRCm39) |
unclassified |
probably benign |
|
|
R5596:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
|
R5616:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
|
R5617:Sptbn5
|
UTSW |
2 |
119,876,965 (GRCm39) |
unclassified |
probably benign |
|
|
R5619:Sptbn5
|
UTSW |
2 |
119,880,613 (GRCm39) |
exon |
noncoding transcript |
|
|
R5625:Sptbn5
|
UTSW |
2 |
119,910,273 (GRCm39) |
exon |
noncoding transcript |
|
|
R5636:Sptbn5
|
UTSW |
2 |
119,887,885 (GRCm39) |
unclassified |
probably benign |
|
|
R5646:Sptbn5
|
UTSW |
2 |
119,879,292 (GRCm39) |
splice site |
noncoding transcript |
|
|
R5666:Sptbn5
|
UTSW |
2 |
119,916,048 (GRCm39) |
unclassified |
probably benign |
|
|
R5670:Sptbn5
|
UTSW |
2 |
119,916,048 (GRCm39) |
unclassified |
probably benign |
|
|
R5715:Sptbn5
|
UTSW |
2 |
119,902,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Sptbn5
|
UTSW |
2 |
119,880,939 (GRCm39) |
exon |
noncoding transcript |
|
|
R5885:Sptbn5
|
UTSW |
2 |
119,907,144 (GRCm39) |
unclassified |
probably benign |
|
|
R6016:Sptbn5
|
UTSW |
2 |
119,880,573 (GRCm39) |
exon |
noncoding transcript |
|
|
R6183:Sptbn5
|
UTSW |
2 |
119,889,898 (GRCm39) |
unclassified |
probably benign |
|
|
R6184:Sptbn5
|
UTSW |
2 |
119,889,898 (GRCm39) |
unclassified |
probably benign |
|
|
R6219:Sptbn5
|
UTSW |
2 |
119,907,803 (GRCm39) |
unclassified |
probably benign |
|
|
R6335:Sptbn5
|
UTSW |
2 |
119,884,900 (GRCm39) |
unclassified |
probably benign |
|
|
R6383:Sptbn5
|
UTSW |
2 |
119,876,750 (GRCm39) |
unclassified |
probably benign |
|
|
R6450:Sptbn5
|
UTSW |
2 |
119,877,616 (GRCm39) |
unclassified |
probably benign |
|
|
R6516:Sptbn5
|
UTSW |
2 |
119,878,431 (GRCm39) |
unclassified |
probably benign |
|
|
R6523:Sptbn5
|
UTSW |
2 |
119,896,095 (GRCm39) |
splice site |
probably null |
|
|
R6657:Sptbn5
|
UTSW |
2 |
119,906,881 (GRCm39) |
unclassified |
probably benign |
|
|
R6661:Sptbn5
|
UTSW |
2 |
119,902,856 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8208:Sptbn5
|
UTSW |
2 |
119,878,326 (GRCm39) |
nonsense |
noncoding transcript |
|
|
R8261:Sptbn5
|
UTSW |
2 |
119,877,616 (GRCm39) |
missense |
noncoding transcript |
|
|
R8300:Sptbn5
|
UTSW |
2 |
119,878,058 (GRCm39) |
missense |
noncoding transcript |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation