Incidental Mutation 'R5636:Sptbn5'
| ID |
440354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn5
|
| Ensembl Gene |
ENSMUSG00000074899 |
| Gene Name |
spectrin beta, non-erythrocytic 5 |
| Synonyms |
EG640524, Spnb5 |
| MMRRC Submission |
043287-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R5636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120046157-120085772 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 120057404 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110756]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110756
|
| SMART Domains |
Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899
| 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 |
probably benign
Transcript: ENSMUST00000125737
|
| SMART Domains |
Protein: ENSMUSP00000115497
Gene: ENSMUSG00000074899
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
2 |
28 |
6e-8 |
BLAST |
|
SPEC
|
34 |
128 |
2.43e-3 |
SMART |
|
SPEC
|
134 |
234 |
9.38e-19 |
SMART |
|
Blast:SPEC
|
240 |
280 |
2e-20 |
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,944,982 (GRCm38) |
Q448* |
probably null |
Het |
| Abca5 |
A |
G |
11: 110,301,536 (GRCm38) |
Y717H |
probably benign |
Het |
| Abcg2 |
T |
A |
6: 58,672,056 (GRCm38) |
D295E |
probably damaging |
Het |
| Accsl |
C |
T |
2: 93,869,025 (GRCm38) |
E7K |
probably benign |
Het |
| Acvr2b |
A |
G |
9: 119,428,309 (GRCm38) |
Y152C |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,704,372 (GRCm38) |
E1747G |
probably damaging |
Het |
| Arpp19 |
C |
T |
9: 75,037,933 (GRCm38) |
|
probably benign |
Het |
| Atp10d |
A |
G |
5: 72,288,219 (GRCm38) |
Y74C |
probably damaging |
Het |
| Atp6v0b |
T |
C |
4: 117,886,385 (GRCm38) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,388,825 (GRCm38) |
M1133I |
probably benign |
Het |
| Bysl |
A |
C |
17: 47,602,723 (GRCm38) |
D259E |
probably benign |
Het |
| Capn1 |
A |
T |
19: 6,014,442 (GRCm38) |
V9E |
probably benign |
Het |
| Cdkl2 |
T |
C |
5: 92,033,742 (GRCm38) |
I127V |
probably benign |
Het |
| Cyp2c38 |
G |
A |
19: 39,438,306 (GRCm38) |
Q184* |
probably null |
Het |
| Cypt12 |
C |
T |
3: 17,948,585 (GRCm38) |
R41C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,282,481 (GRCm38) |
I2469V |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,511,018 (GRCm38) |
V923A |
possibly damaging |
Het |
| Gm13889 |
A |
G |
2: 93,956,686 (GRCm38) |
C148R |
probably damaging |
Het |
| Gpd1 |
A |
T |
15: 99,722,058 (GRCm38) |
T223S |
probably benign |
Het |
| Hcrtr1 |
C |
A |
4: 130,130,945 (GRCm38) |
G383C |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,163,456 (GRCm38) |
P2047S |
possibly damaging |
Het |
| Islr2 |
T |
C |
9: 58,201,301 (GRCm38) |
T35A |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,987,078 (GRCm38) |
D644G |
probably benign |
Het |
| Lrrc6 |
A |
T |
15: 66,500,816 (GRCm38) |
|
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,695,480 (GRCm38) |
T1173I |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,901,240 (GRCm38) |
V221A |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 48,198,470 (GRCm38) |
C237R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,797,528 (GRCm38) |
M264T |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,502,676 (GRCm38) |
N32S |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,225,294 (GRCm38) |
L1010Q |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,349,399 (GRCm38) |
K145M |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,648,188 (GRCm38) |
K755* |
probably null |
Het |
| Olfr1501 |
C |
T |
19: 13,838,337 (GRCm38) |
V279M |
possibly damaging |
Het |
| Olfr332 |
T |
C |
11: 58,490,051 (GRCm38) |
K235E |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,461,560 (GRCm38) |
R794Q |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 50,956,192 (GRCm38) |
|
probably null |
Het |
| Ric3 |
G |
A |
7: 109,038,820 (GRCm38) |
T242I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,436,629 (GRCm38) |
R1814K |
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,436,905 (GRCm38) |
Q1906P |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,997,954 (GRCm38) |
I265N |
probably damaging |
Het |
| Scap |
G |
T |
9: 110,380,594 (GRCm38) |
G744C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,275,014 (GRCm38) |
Q88R |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 54,997,193 (GRCm38) |
D907G |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,950,193 (GRCm38) |
L359M |
probably damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,554,216 (GRCm38) |
L749F |
possibly damaging |
Het |
| Smtn |
T |
G |
11: 3,517,829 (GRCm38) |
|
probably null |
Het |
| Spag9 |
C |
A |
11: 94,069,012 (GRCm38) |
D342E |
probably damaging |
Het |
| Stam |
G |
T |
2: 14,117,427 (GRCm38) |
M112I |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 157,100,224 (GRCm38) |
W125* |
probably null |
Het |
| Tmem215 |
A |
G |
4: 40,474,394 (GRCm38) |
E157G |
probably damaging |
Het |
| Traf6 |
G |
A |
2: 101,696,909 (GRCm38) |
V335M |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 37,983,996 (GRCm38) |
K2302N |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,954,429 (GRCm38) |
H605R |
probably damaging |
Het |
|
| Other mutations in Sptbn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Sptbn5
|
APN |
2 |
120,054,467 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01552:Sptbn5
|
APN |
2 |
120,054,422 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01800:Sptbn5
|
APN |
2 |
120,056,427 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02156:Sptbn5
|
APN |
2 |
120,047,617 (GRCm38) |
unclassified |
probably benign |
|
|
R0020:Sptbn5
|
UTSW |
2 |
120,065,631 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0690:Sptbn5
|
UTSW |
2 |
120,062,675 (GRCm38) |
splice site |
probably null |
|
|
R1121:Sptbn5
|
UTSW |
2 |
120,069,390 (GRCm38) |
splice site |
probably null |
|
|
R1223:Sptbn5
|
UTSW |
2 |
120,072,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1405:Sptbn5
|
UTSW |
2 |
120,050,616 (GRCm38) |
splice site |
noncoding transcript |
|
|
R1852:Sptbn5
|
UTSW |
2 |
120,071,644 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1927:Sptbn5
|
UTSW |
2 |
120,070,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2570:Sptbn5
|
UTSW |
2 |
120,048,640 (GRCm38) |
exon |
noncoding transcript |
|
|
R3898:Sptbn5
|
UTSW |
2 |
120,057,210 (GRCm38) |
exon |
noncoding transcript |
|
|
R3976:Sptbn5
|
UTSW |
2 |
120,048,261 (GRCm38) |
splice site |
noncoding transcript |
|
|
R4092:Sptbn5
|
UTSW |
2 |
120,067,051 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4119:Sptbn5
|
UTSW |
2 |
120,064,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4120:Sptbn5
|
UTSW |
2 |
120,064,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4351:Sptbn5
|
UTSW |
2 |
120,083,199 (GRCm38) |
exon |
noncoding transcript |
|
|
R4352:Sptbn5
|
UTSW |
2 |
120,083,199 (GRCm38) |
exon |
noncoding transcript |
|
|
R4364:Sptbn5
|
UTSW |
2 |
120,068,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4371:Sptbn5
|
UTSW |
2 |
120,065,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4606:Sptbn5
|
UTSW |
2 |
120,067,446 (GRCm38) |
splice site |
probably null |
|
|
R4616:Sptbn5
|
UTSW |
2 |
120,048,757 (GRCm38) |
exon |
noncoding transcript |
|
|
R4687:Sptbn5
|
UTSW |
2 |
120,077,208 (GRCm38) |
unclassified |
probably benign |
|
|
R4693:Sptbn5
|
UTSW |
2 |
120,059,416 (GRCm38) |
unclassified |
probably benign |
|
|
R4762:Sptbn5
|
UTSW |
2 |
120,077,222 (GRCm38) |
unclassified |
noncoding transcript |
|
|
R4798:Sptbn5
|
UTSW |
2 |
120,059,141 (GRCm38) |
unclassified |
probably benign |
|
|
R4818:Sptbn5
|
UTSW |
2 |
120,067,968 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4822:Sptbn5
|
UTSW |
2 |
120,067,968 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4825:Sptbn5
|
UTSW |
2 |
120,055,893 (GRCm38) |
unclassified |
probably benign |
|
|
R4933:Sptbn5
|
UTSW |
2 |
120,050,120 (GRCm38) |
exon |
noncoding transcript |
|
|
R4970:Sptbn5
|
UTSW |
2 |
120,051,777 (GRCm38) |
exon |
noncoding transcript |
|
|
R5141:Sptbn5
|
UTSW |
2 |
120,061,731 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5209:Sptbn5
|
UTSW |
2 |
120,072,002 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5225:Sptbn5
|
UTSW |
2 |
120,085,331 (GRCm38) |
unclassified |
probably benign |
|
|
R5227:Sptbn5
|
UTSW |
2 |
120,085,331 (GRCm38) |
unclassified |
probably benign |
|
|
R5421:Sptbn5
|
UTSW |
2 |
120,080,780 (GRCm38) |
critical splice donor site |
noncoding transcript |
|
|
R5495:Sptbn5
|
UTSW |
2 |
120,046,484 (GRCm38) |
unclassified |
probably benign |
|
|
R5498:Sptbn5
|
UTSW |
2 |
120,076,638 (GRCm38) |
unclassified |
probably benign |
|
|
R5511:Sptbn5
|
UTSW |
2 |
120,059,721 (GRCm38) |
unclassified |
probably benign |
|
|
R5596:Sptbn5
|
UTSW |
2 |
120,046,484 (GRCm38) |
unclassified |
probably benign |
|
|
R5616:Sptbn5
|
UTSW |
2 |
120,046,484 (GRCm38) |
unclassified |
probably benign |
|
|
R5617:Sptbn5
|
UTSW |
2 |
120,046,484 (GRCm38) |
unclassified |
probably benign |
|
|
R5619:Sptbn5
|
UTSW |
2 |
120,050,132 (GRCm38) |
exon |
noncoding transcript |
|
|
R5625:Sptbn5
|
UTSW |
2 |
120,079,792 (GRCm38) |
exon |
noncoding transcript |
|
|
R5646:Sptbn5
|
UTSW |
2 |
120,048,811 (GRCm38) |
splice site |
noncoding transcript |
|
|
R5666:Sptbn5
|
UTSW |
2 |
120,085,567 (GRCm38) |
unclassified |
probably benign |
|
|
R5670:Sptbn5
|
UTSW |
2 |
120,085,567 (GRCm38) |
unclassified |
probably benign |
|
|
R5715:Sptbn5
|
UTSW |
2 |
120,072,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5774:Sptbn5
|
UTSW |
2 |
120,050,458 (GRCm38) |
exon |
noncoding transcript |
|
|
R5885:Sptbn5
|
UTSW |
2 |
120,076,663 (GRCm38) |
unclassified |
probably benign |
|
|
R6016:Sptbn5
|
UTSW |
2 |
120,050,092 (GRCm38) |
exon |
noncoding transcript |
|
|
R6183:Sptbn5
|
UTSW |
2 |
120,059,417 (GRCm38) |
unclassified |
probably benign |
|
|
R6184:Sptbn5
|
UTSW |
2 |
120,059,417 (GRCm38) |
unclassified |
probably benign |
|
|
R6219:Sptbn5
|
UTSW |
2 |
120,077,322 (GRCm38) |
unclassified |
probably benign |
|
|
R6335:Sptbn5
|
UTSW |
2 |
120,054,419 (GRCm38) |
unclassified |
probably benign |
|
|
R6383:Sptbn5
|
UTSW |
2 |
120,046,269 (GRCm38) |
unclassified |
probably benign |
|
|
R6450:Sptbn5
|
UTSW |
2 |
120,047,135 (GRCm38) |
unclassified |
probably benign |
|
|
R6516:Sptbn5
|
UTSW |
2 |
120,047,950 (GRCm38) |
unclassified |
probably benign |
|
|
R6523:Sptbn5
|
UTSW |
2 |
120,065,614 (GRCm38) |
splice site |
probably null |
|
|
R6657:Sptbn5
|
UTSW |
2 |
120,076,400 (GRCm38) |
unclassified |
probably benign |
|
|
R6661:Sptbn5
|
UTSW |
2 |
120,072,375 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8208:Sptbn5
|
UTSW |
2 |
120,047,845 (GRCm38) |
nonsense |
noncoding transcript |
|
|
R8261:Sptbn5
|
UTSW |
2 |
120,047,135 (GRCm38) |
missense |
noncoding transcript |
|
|
R8300:Sptbn5
|
UTSW |
2 |
120,047,577 (GRCm38) |
missense |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAATAACGTCATCCAGTTCC -3'
(R):5'- TGGTTGCTTTCCCAAGGGAG -3'
Sequencing Primer
(F):5'- CTGGACAATCTATGTATCTCCAGGG -3'
(R):5'- TTTCCCAAGGGAGCAGTCAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation