Incidental Mutation 'R1927:Sptbn5'
| ID |
214926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn5
|
| Ensembl Gene |
ENSMUSG00000074899 |
| Gene Name |
spectrin beta, non-erythrocytic 5 |
| Synonyms |
Spnb5, EG640524 |
| MMRRC Submission |
039945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R1927 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119900943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 213
(T213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110756]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110756
AA Change: T213A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899
AA Change: T213A
| 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: ENSMUST00000134935
|
| SMART Domains |
Protein: ENSMUSP00000116766
Gene: ENSMUSG00000074899
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
CH
|
53 |
154 |
1.9e-16 |
SMART |
|
CH
|
176 |
274 |
3.02e-19 |
SMART |
|
SPEC
|
306 |
412 |
8.64e-1 |
SMART |
|
SPEC
|
426 |
527 |
3.85e-6 |
SMART |
|
SPEC
|
533 |
632 |
1.38e-7 |
SMART |
|
SPEC
|
638 |
738 |
9.46e-15 |
SMART |
|
coiled coil region
|
780 |
809 |
N/A |
INTRINSIC |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,613,338 (GRCm39) |
S31P |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,283,999 (GRCm39) |
H2524Q |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,266,586 (GRCm39) |
V135A |
probably benign |
Het |
| Actl11 |
T |
G |
9: 107,806,736 (GRCm39) |
L353R |
possibly damaging |
Het |
| Adcy6 |
G |
T |
15: 98,496,379 (GRCm39) |
|
probably null |
Het |
| B230104I21Rik |
A |
G |
4: 154,425,694 (GRCm39) |
I697T |
probably damaging |
Het |
| BC061237 |
G |
A |
14: 44,738,700 (GRCm39) |
R33K |
possibly damaging |
Het |
| Brf1 |
C |
A |
12: 112,963,964 (GRCm39) |
V5F |
possibly damaging |
Het |
| Chmp2a |
C |
T |
7: 12,767,863 (GRCm39) |
A21T |
possibly damaging |
Het |
| Cwh43 |
A |
G |
5: 73,610,417 (GRCm39) |
N607S |
probably benign |
Het |
| Ddhd2 |
G |
A |
8: 26,231,688 (GRCm39) |
L445F |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,669,143 (GRCm39) |
D1180Y |
possibly damaging |
Het |
| Dnaaf4 |
A |
T |
9: 72,867,909 (GRCm39) |
I57L |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,083,511 (GRCm39) |
S133T |
possibly damaging |
Het |
| Efs |
A |
T |
14: 55,154,620 (GRCm39) |
C540S |
possibly damaging |
Het |
| Ehd4 |
C |
T |
2: 119,921,973 (GRCm39) |
G428S |
probably benign |
Het |
| Eml1 |
C |
T |
12: 108,504,476 (GRCm39) |
R812* |
probably null |
Het |
| Enpp1 |
C |
T |
10: 24,530,786 (GRCm39) |
D557N |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,315,803 (GRCm39) |
T65A |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,615 (GRCm39) |
R72G |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,354,336 (GRCm39) |
R213H |
possibly damaging |
Het |
| Gm10518 |
A |
G |
1: 179,631,210 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,780,082 (GRCm39) |
F558S |
probably damaging |
Het |
| Got1 |
C |
T |
19: 43,504,119 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
C |
T |
19: 55,226,191 (GRCm39) |
V242I |
probably benign |
Het |
| Hdgfl2 |
T |
A |
17: 56,406,874 (GRCm39) |
V606E |
possibly damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,146,979 (GRCm39) |
|
probably benign |
Het |
| Iqub |
T |
A |
6: 24,491,670 (GRCm39) |
I339L |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,263,720 (GRCm39) |
T668I |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,617,474 (GRCm39) |
I592V |
probably benign |
Het |
| Mfsd12 |
G |
T |
10: 81,197,921 (GRCm39) |
M296I |
probably benign |
Het |
| Mfsd4b4 |
C |
T |
10: 39,768,437 (GRCm39) |
A219T |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,414 (GRCm39) |
S9P |
possibly damaging |
Het |
| Nbr1 |
A |
G |
11: 101,458,040 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Ncf4 |
G |
T |
15: 78,144,846 (GRCm39) |
G217V |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,897,668 (GRCm39) |
E96G |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,818,344 (GRCm39) |
N279K |
probably damaging |
Het |
| Nr5a2 |
A |
G |
1: 136,872,732 (GRCm39) |
Y56H |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,101,049 (GRCm39) |
T280A |
probably benign |
Het |
| Or1o2 |
A |
G |
17: 37,542,434 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or2b28 |
T |
A |
13: 21,531,116 (GRCm39) |
I6N |
probably benign |
Het |
| Or2w2 |
A |
G |
13: 21,758,426 (GRCm39) |
F67L |
probably benign |
Het |
| Or55b10 |
A |
G |
7: 102,143,266 (GRCm39) |
S239P |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,393 (GRCm39) |
Y260H |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,230,766 (GRCm39) |
V565A |
probably benign |
Het |
| Rbm6 |
T |
G |
9: 107,730,102 (GRCm39) |
D182A |
probably damaging |
Het |
| Rhbg |
A |
G |
3: 88,151,859 (GRCm39) |
F400L |
probably benign |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,738 (GRCm39) |
N33K |
possibly damaging |
Het |
| Rtp1 |
T |
A |
16: 23,249,959 (GRCm39) |
I108N |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,797 (GRCm39) |
F15I |
probably benign |
Het |
| Sirpa |
C |
T |
2: 129,458,296 (GRCm39) |
T304I |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,184,430 (GRCm39) |
I257T |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,768,938 (GRCm39) |
I256T |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 75,033,674 (GRCm39) |
K1208R |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,210,633 (GRCm39) |
P744Q |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,872,936 (GRCm39) |
T224A |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,785,655 (GRCm39) |
N465S |
probably damaging |
Het |
| Stmn2 |
T |
A |
3: 8,610,636 (GRCm39) |
M40K |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,674 (GRCm38) |
C133S |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,707,780 (GRCm39) |
V172M |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,636,754 (GRCm39) |
Y151F |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,280,229 (GRCm39) |
T912A |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,135,951 (GRCm39) |
A2269E |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
| Zfp758 |
T |
G |
17: 22,594,823 (GRCm39) |
S436R |
probably damaging |
Het |
| Zfp791 |
G |
T |
8: 85,837,312 (GRCm39) |
T184K |
probably benign |
Het |
| Znrf3 |
A |
G |
11: 5,231,062 (GRCm39) |
V817A |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCACATTGCTTTGGCCTTC -3'
(R):5'- CTTTCCCAAGAGACACAGGC -3'
Sequencing Primer
(F):5'- TGAAAACCTCAGATCTGTCCTG -3'
(R):5'- CCTGGGGCACTGACTGTTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation