Incidental Mutation 'R4933:Sptbn5'
| ID |
380698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn5
|
| Ensembl Gene |
ENSMUSG00000074899 |
| Gene Name |
spectrin beta, non-erythrocytic 5 |
| Synonyms |
Spnb5, EG640524 |
| MMRRC Submission |
042533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R4933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
G to A
at 119880601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| 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 |
0.3244 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,276,226 (GRCm39) |
E643G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,334,839 (GRCm39) |
V1937A |
probably benign |
Het |
| Acot10 |
A |
T |
15: 20,666,416 (GRCm39) |
N108K |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,386 (GRCm39) |
M478K |
probably benign |
Het |
| Akirin1 |
G |
A |
4: 123,630,651 (GRCm39) |
S191F |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,964,426 (GRCm39) |
S145P |
probably damaging |
Het |
| Aurkb |
T |
C |
11: 68,938,970 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,877,549 (GRCm39) |
|
probably benign |
Het |
| Ccp110 |
A |
G |
7: 118,324,542 (GRCm39) |
E688G |
probably damaging |
Het |
| Champ1 |
T |
A |
8: 13,929,137 (GRCm39) |
S432T |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,875,209 (GRCm39) |
N633I |
probably damaging |
Het |
| Dagla |
A |
T |
19: 10,247,079 (GRCm39) |
|
probably null |
Het |
| Dkkl1 |
A |
T |
7: 44,860,949 (GRCm39) |
L10Q |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fndc7 |
G |
T |
3: 108,783,986 (GRCm39) |
Q208K |
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,724,796 (GRCm39) |
C53S |
probably damaging |
Het |
| Gja8 |
T |
A |
3: 96,826,351 (GRCm39) |
|
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,734 (GRCm39) |
N328K |
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,503,524 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,091,389 (GRCm39) |
|
probably benign |
Het |
| Ide |
A |
G |
19: 37,255,155 (GRCm39) |
Y883H |
unknown |
Het |
| Igf2r |
A |
G |
17: 12,910,764 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,943,446 (GRCm39) |
Y723H |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,079,063 (GRCm39) |
|
probably null |
Het |
| Lancl1 |
A |
T |
1: 67,060,193 (GRCm39) |
N77K |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,349 (GRCm39) |
N920K |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,933,963 (GRCm39) |
V3554I |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,136,386 (GRCm39) |
A2163T |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,384,734 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,781,204 (GRCm39) |
Q154K |
probably damaging |
Het |
| Or2a7 |
C |
T |
6: 43,151,255 (GRCm39) |
L112F |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,441 (GRCm39) |
I214T |
probably damaging |
Het |
| Pcdhgb2 |
G |
A |
18: 37,825,267 (GRCm39) |
V753M |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,117,013 (GRCm39) |
L195Q |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Ppp1r21 |
T |
A |
17: 88,855,049 (GRCm39) |
D109E |
probably benign |
Het |
| Prr15l |
G |
A |
11: 96,825,588 (GRCm39) |
G73S |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,339 (GRCm39) |
F219S |
probably benign |
Het |
| Rnpep |
C |
A |
1: 135,194,764 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,803,723 (GRCm39) |
T643A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,960,831 (GRCm39) |
C36S |
probably damaging |
Het |
| Shc3 |
G |
T |
13: 51,596,805 (GRCm39) |
T406N |
probably benign |
Het |
| Slit3 |
G |
T |
11: 35,579,420 (GRCm39) |
G1199V |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,919,175 (GRCm39) |
H195N |
possibly damaging |
Het |
| St8sia6 |
T |
C |
2: 13,670,253 (GRCm39) |
N236D |
probably damaging |
Het |
| Stpg1 |
A |
T |
4: 135,233,727 (GRCm39) |
Q3L |
probably benign |
Het |
| Sult3a1 |
T |
A |
10: 33,742,550 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,958 (GRCm39) |
I180L |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,832,247 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,402 (GRCm39) |
I618N |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,812,371 (GRCm39) |
N182S |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,521 (GRCm39) |
Y30H |
probably damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
| Zswim2 |
A |
G |
2: 83,755,571 (GRCm39) |
L110P |
probably 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 |
|
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 |
|
|
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'- GCCCTGATGATTCATTGGACC -3'
(R):5'- ACTAGTTTCAACACTGGCCC -3'
Sequencing Primer
(F):5'- CTGATGATTCATTGGACCCTACAGAC -3'
(R):5'- AACACTGGCCCACTCTGGTTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation