Incidental Mutation 'R5421:Sptbn5'
ID |
426545 |
Institutional Source |
Beutler Lab
|
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 # |
R5421 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
A to G
at 119911261 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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
A |
T |
15: 74,421,876 (GRCm39) |
Q882L |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,052,668 (GRCm39) |
V525A |
probably benign |
Het |
AI987944 |
T |
C |
7: 41,024,200 (GRCm39) |
T263A |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,363,271 (GRCm39) |
S31G |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,241,504 (GRCm39) |
S685P |
probably benign |
Het |
Blnk |
C |
A |
19: 40,956,967 (GRCm39) |
V47F |
probably damaging |
Het |
Bmp4 |
T |
A |
14: 46,623,355 (GRCm39) |
M64L |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,909,577 (GRCm39) |
V1017E |
possibly damaging |
Het |
C1ra |
C |
T |
6: 124,499,749 (GRCm39) |
P645L |
probably benign |
Het |
Cadm2 |
A |
T |
16: 66,568,513 (GRCm39) |
C248* |
probably null |
Het |
Cdk6 |
T |
C |
5: 3,523,120 (GRCm39) |
V180A |
probably damaging |
Het |
Colec12 |
A |
T |
18: 9,858,580 (GRCm39) |
R454S |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,438,964 (GRCm39) |
S1111P |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,996,186 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
A |
11: 69,326,462 (GRCm39) |
T3613I |
probably damaging |
Het |
Elp6 |
A |
G |
9: 110,143,132 (GRCm39) |
Q115R |
probably benign |
Het |
Enpp1 |
A |
G |
10: 24,545,655 (GRCm39) |
Y262H |
probably damaging |
Het |
Far2 |
A |
G |
6: 148,047,690 (GRCm39) |
|
probably null |
Het |
Flnb |
C |
T |
14: 7,926,494 (GRCm38) |
T1846I |
probably damaging |
Het |
Folr2 |
C |
T |
7: 101,489,851 (GRCm39) |
R139H |
probably benign |
Het |
Fxn |
A |
T |
19: 24,254,649 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
C |
2: 54,747,908 (GRCm39) |
N263T |
probably damaging |
Het |
Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
Htr5a |
G |
T |
5: 28,055,985 (GRCm39) |
W325C |
possibly damaging |
Het |
Itga4 |
T |
A |
2: 79,146,385 (GRCm39) |
Y772* |
probably null |
Het |
Kif12 |
T |
C |
4: 63,089,665 (GRCm39) |
S59G |
probably benign |
Het |
Kifc3 |
C |
T |
8: 95,836,473 (GRCm39) |
R96Q |
probably damaging |
Het |
Klrd1 |
T |
C |
6: 129,575,406 (GRCm39) |
Y191H |
probably damaging |
Het |
Ndst3 |
A |
T |
3: 123,428,008 (GRCm39) |
|
probably null |
Het |
Nek1 |
A |
C |
8: 61,459,711 (GRCm39) |
R6S |
possibly damaging |
Het |
Or4b13 |
G |
A |
2: 90,083,089 (GRCm39) |
T81I |
probably benign |
Het |
Or5p68 |
G |
C |
7: 107,946,182 (GRCm39) |
A2G |
probably benign |
Het |
Or6k8-ps1 |
C |
T |
1: 173,979,861 (GRCm39) |
R260* |
probably null |
Het |
Palld |
C |
T |
8: 61,969,584 (GRCm39) |
E1005K |
probably damaging |
Het |
Ppp2r1a |
T |
A |
17: 21,176,968 (GRCm39) |
Y169N |
probably benign |
Het |
Rad50 |
T |
C |
11: 53,565,773 (GRCm39) |
D960G |
probably benign |
Het |
Rad51ap2 |
A |
T |
12: 11,509,368 (GRCm39) |
K915* |
probably null |
Het |
Rasal2 |
T |
C |
1: 157,126,711 (GRCm39) |
K109R |
probably benign |
Het |
Rc3h1 |
G |
A |
1: 160,779,400 (GRCm39) |
|
probably null |
Het |
Rnf6 |
C |
T |
5: 146,147,339 (GRCm39) |
V560I |
probably benign |
Het |
Samd8 |
A |
G |
14: 21,842,563 (GRCm39) |
D295G |
probably damaging |
Het |
Scart1 |
T |
C |
7: 139,803,813 (GRCm39) |
L337P |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,451,581 (GRCm39) |
Y245H |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc28a3 |
A |
T |
13: 58,722,079 (GRCm39) |
F268L |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,346 (GRCm39) |
T420A |
probably damaging |
Het |
Speer4f2 |
A |
T |
5: 17,579,356 (GRCm39) |
T52S |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,043,095 (GRCm39) |
N1414D |
probably damaging |
Het |
Syt9 |
T |
C |
7: 107,024,563 (GRCm39) |
V152A |
probably benign |
Het |
Thoc2l |
A |
T |
5: 104,666,261 (GRCm39) |
N261I |
probably benign |
Het |
Tln1 |
G |
A |
4: 43,533,609 (GRCm39) |
A2315V |
possibly damaging |
Het |
Tox |
C |
A |
4: 6,842,409 (GRCm39) |
M40I |
possibly damaging |
Het |
Ucp1 |
G |
A |
8: 84,017,320 (GRCm39) |
A37T |
probably benign |
Het |
Vapa |
A |
G |
17: 65,902,031 (GRCm39) |
V33A |
possibly damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,882 (GRCm39) |
L231S |
probably damaging |
Het |
Vmn2r15 |
C |
T |
5: 109,434,401 (GRCm39) |
A768T |
probably damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,282,805 (GRCm39) |
T604A |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
Wwc1 |
C |
T |
11: 35,801,123 (GRCm39) |
E105K |
possibly damaging |
Het |
Wwc1 |
T |
G |
11: 35,766,890 (GRCm39) |
D455A |
possibly damaging |
Het |
Zfp426 |
G |
A |
9: 20,382,015 (GRCm39) |
A309V |
probably damaging |
Het |
Zfp626 |
T |
A |
7: 27,517,335 (GRCm39) |
N105K |
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 |
|
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 |
|
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'- AGAAAGGGTCACTGCTCTCG -3'
(R):5'- AGACCGCCCTCTGTATAACCTC -3'
Sequencing Primer
(F):5'- AGGCACCGTGCTAGGTACTTTAC -3'
(R):5'- GTATAACCTCTCCTTTGCCTTCCGAG -3'
|
Posted On |
2016-09-01 |