Incidental Mutation 'R4120:Sptbn5'
| ID |
315257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn5
|
| Ensembl Gene |
ENSMUSG00000074899 |
| Gene Name |
spectrin beta, non-erythrocytic 5 |
| Synonyms |
Spnb5, EG640524 |
| MMRRC Submission |
040993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R4120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119895010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 798
(D798V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110756]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110756
AA Change: D798V
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899
AA Change: D798V
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
13 |
111 |
6.45e-8 |
SMART |
|
Blast:SPEC
|
117 |
206 |
9e-12 |
BLAST |
|
SPEC
|
219 |
323 |
3.76e-1 |
SMART |
|
SPEC
|
325 |
425 |
3.48e-13 |
SMART |
|
SPEC
|
431 |
530 |
1.09e-5 |
SMART |
|
SPEC
|
536 |
631 |
1.22e-1 |
SMART |
|
SPEC
|
637 |
737 |
1.78e-10 |
SMART |
|
SPEC
|
743 |
837 |
4.73e-15 |
SMART |
|
SPEC
|
843 |
944 |
4.24e-17 |
SMART |
|
SPEC
|
950 |
1051 |
1.36e-15 |
SMART |
|
Blast:SPEC
|
1057 |
1130 |
2e-40 |
BLAST |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (55/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,133,388 (GRCm39) |
E1233* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,872,243 (GRCm39) |
D526G |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,390,600 (GRCm39) |
Y807H |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
A |
G |
2: 158,374,250 (GRCm39) |
M222V |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,387,154 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,256,263 (GRCm39) |
P1535S |
unknown |
Het |
| Dennd2a |
G |
A |
6: 39,442,030 (GRCm39) |
R947C |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,614,846 (GRCm39) |
V217I |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,812 (GRCm39) |
D83G |
possibly damaging |
Het |
| Dppa5a |
A |
T |
9: 78,275,137 (GRCm39) |
M55K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,006,466 (GRCm39) |
V779A |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,934 (GRCm39) |
S353P |
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,589 (GRCm39) |
D391G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,654 (GRCm39) |
K309N |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,748,852 (GRCm39) |
Y375N |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,832,903 (GRCm39) |
S308P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,654,691 (GRCm39) |
Y1065C |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,810,534 (GRCm39) |
I31N |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,864,976 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9951 |
T |
C |
8: 34,522,993 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa2 |
A |
G |
12: 76,452,008 (GRCm39) |
E234G |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,639,584 (GRCm39) |
Y1065* |
probably null |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Map2 |
G |
A |
1: 66,455,063 (GRCm39) |
A1318T |
probably damaging |
Het |
| Mas1 |
A |
T |
17: 13,061,233 (GRCm39) |
N63K |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,739,605 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,133,359 (GRCm39) |
|
noncoding transcript |
Het |
| Oca2 |
A |
T |
7: 55,904,630 (GRCm39) |
D32V |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,221 (GRCm39) |
T6A |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,705 (GRCm39) |
L197S |
possibly damaging |
Het |
| Otub2 |
T |
C |
12: 103,370,489 (GRCm39) |
V257A |
probably damaging |
Het |
| Pink1 |
G |
A |
4: 138,042,822 (GRCm39) |
R461* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,462,935 (GRCm39) |
C901R |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,572 (GRCm39) |
N148K |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,711,637 (GRCm39) |
N107S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,032,427 (GRCm39) |
M376V |
possibly damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,237,542 (GRCm39) |
V81M |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,019,168 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,359,798 (GRCm39) |
Q328L |
probably damaging |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,215 (GRCm39) |
S753P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,630 (GRCm39) |
T366A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
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 |
|
|
IGL02156:Sptbn5
|
APN |
2 |
119,878,098 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCTAAAGGCCTGGTTCC -3'
(R):5'- GTACACTGGTAACTGAATGAGTGG -3'
Sequencing Primer
(F):5'- GGTTCCCACCAACATAGGG -3'
(R):5'- CACTGGTAACTGAATGAGTGGAGAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation