Incidental Mutation 'R5511:Sptbn5'
ID |
431201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn5
|
Ensembl Gene |
ENSMUSG00000074899 |
Gene Name |
spectrin beta, non-erythrocytic 5 |
Synonyms |
Spnb5, EG640524 |
MMRRC Submission |
043072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R5511 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 119890202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000115497 Gene: ENSMUSG00000074899 AA Change: D164G
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: 98.5%
- 3x: 97.4%
- 10x: 95.1%
- 20x: 90.3%
|
Validation Efficiency |
98% (81/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,654,685 (GRCm39) |
L173P |
probably damaging |
Het |
Agl |
A |
T |
3: 116,582,209 (GRCm39) |
V271D |
possibly damaging |
Het |
Alox15 |
G |
T |
11: 70,240,808 (GRCm39) |
P191T |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,890,254 (GRCm39) |
Y583C |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,070,375 (GRCm39) |
|
probably benign |
Het |
Bms1 |
A |
G |
6: 118,365,848 (GRCm39) |
F1113L |
possibly damaging |
Het |
Cap1 |
A |
C |
4: 122,756,583 (GRCm39) |
|
probably benign |
Het |
Car11 |
T |
C |
7: 45,349,885 (GRCm39) |
W35R |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,701,740 (GRCm39) |
Y91* |
probably null |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Cd22 |
A |
T |
7: 30,569,496 (GRCm39) |
I540N |
probably damaging |
Het |
Chad |
A |
T |
11: 94,456,072 (GRCm39) |
E50V |
probably damaging |
Het |
Chd3 |
C |
G |
11: 69,252,301 (GRCm39) |
G34R |
probably damaging |
Het |
Col9a1 |
T |
C |
1: 24,218,619 (GRCm39) |
V77A |
unknown |
Het |
Copg1 |
G |
A |
6: 87,889,276 (GRCm39) |
V873M |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,363,363 (GRCm39) |
V3975E |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,728,703 (GRCm39) |
V1290D |
possibly damaging |
Het |
Elp2 |
A |
T |
18: 24,745,507 (GRCm39) |
K150* |
probably null |
Het |
Eri3 |
A |
C |
4: 117,472,386 (GRCm39) |
Y260S |
possibly damaging |
Het |
Esrrg |
C |
T |
1: 187,943,304 (GRCm39) |
L426F |
probably damaging |
Het |
Farp1 |
G |
T |
14: 121,474,584 (GRCm39) |
V266L |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,458,897 (GRCm39) |
E2459G |
probably damaging |
Het |
Glis1 |
G |
A |
4: 107,293,074 (GRCm39) |
D66N |
probably damaging |
Het |
Gm14129 |
T |
A |
2: 148,773,446 (GRCm39) |
|
noncoding transcript |
Het |
Gm28051 |
A |
G |
12: 102,686,415 (GRCm39) |
*82R |
probably null |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Gne |
C |
T |
4: 44,041,843 (GRCm39) |
V485M |
probably damaging |
Het |
Lcn10 |
T |
A |
2: 25,572,841 (GRCm39) |
V15E |
probably benign |
Het |
Mapk11 |
T |
A |
15: 89,029,380 (GRCm39) |
|
probably null |
Het |
Me3 |
T |
G |
7: 89,455,876 (GRCm39) |
Y243D |
probably damaging |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Myo1h |
T |
A |
5: 114,483,958 (GRCm39) |
L519* |
probably null |
Het |
Myo9a |
T |
C |
9: 59,687,495 (GRCm39) |
V200A |
probably damaging |
Het |
Mzf1 |
T |
A |
7: 12,785,526 (GRCm39) |
Q161H |
possibly damaging |
Het |
Nim1k |
T |
G |
13: 120,189,130 (GRCm39) |
H93P |
probably damaging |
Het |
Nkx6-1 |
C |
A |
5: 101,811,532 (GRCm39) |
R190L |
probably damaging |
Het |
Noc3l |
A |
G |
19: 38,782,625 (GRCm39) |
V671A |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,460,543 (GRCm39) |
S2257P |
probably benign |
Het |
Nup210 |
T |
A |
6: 91,003,945 (GRCm39) |
I648F |
probably damaging |
Het |
Oplah |
T |
C |
15: 76,189,944 (GRCm39) |
E223G |
possibly damaging |
Het |
Or5b120 |
T |
C |
19: 13,480,556 (GRCm39) |
M283T |
probably benign |
Het |
Plekhs1 |
A |
C |
19: 56,474,224 (GRCm39) |
T457P |
probably damaging |
Het |
Plppr4 |
G |
A |
3: 117,119,551 (GRCm39) |
T286I |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,037 (GRCm39) |
|
probably benign |
Het |
Prss39 |
T |
A |
1: 34,541,878 (GRCm39) |
D318E |
possibly damaging |
Het |
Psap |
A |
G |
10: 60,134,959 (GRCm39) |
E289G |
possibly damaging |
Het |
Rad17 |
A |
G |
13: 100,764,157 (GRCm39) |
V438A |
possibly damaging |
Het |
Raf1 |
T |
C |
6: 115,597,217 (GRCm39) |
S28G |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,329,561 (GRCm39) |
D2978G |
probably benign |
Het |
Rnf170 |
T |
A |
8: 26,631,027 (GRCm39) |
D213E |
probably damaging |
Het |
Rsph3a |
T |
A |
17: 8,164,905 (GRCm39) |
H88Q |
possibly damaging |
Het |
Scd1 |
A |
G |
19: 44,395,198 (GRCm39) |
I9T |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,968,911 (GRCm39) |
|
probably benign |
Het |
Slc14a1 |
C |
T |
18: 78,145,686 (GRCm39) |
S416N |
probably benign |
Het |
Smok4a |
T |
C |
17: 13,746,474 (GRCm39) |
|
noncoding transcript |
Het |
Sostdc1 |
A |
T |
12: 36,367,165 (GRCm39) |
I114F |
probably damaging |
Het |
Spen |
G |
A |
4: 141,202,375 (GRCm39) |
T2084I |
possibly damaging |
Het |
Spen |
G |
T |
4: 141,244,149 (GRCm39) |
D295E |
unknown |
Het |
Srebf1 |
T |
C |
11: 60,101,184 (GRCm39) |
|
probably benign |
Het |
Tcea3 |
A |
T |
4: 135,998,683 (GRCm39) |
Y319F |
probably damaging |
Het |
Timd4 |
T |
A |
11: 46,710,807 (GRCm39) |
|
probably null |
Het |
Tmem88b |
G |
A |
4: 155,870,002 (GRCm39) |
P20S |
probably damaging |
Het |
Tsen2 |
T |
A |
6: 115,538,365 (GRCm39) |
C281S |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,487,011 (GRCm39) |
T551A |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,474,832 (GRCm39) |
H732R |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,063,995 (GRCm39) |
|
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,344,836 (GRCm39) |
S1072P |
probably benign |
Het |
Zfp148 |
A |
G |
16: 33,255,004 (GRCm39) |
|
probably benign |
Het |
Zfp2 |
T |
A |
11: 50,790,851 (GRCm39) |
E397D |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,740,499 (GRCm39) |
F599L |
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 |
|
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 |
|
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'- ACAGGAGTAAGGGCACACTC -3'
(R):5'- TCCGGAGCTAGAATGGTGGTTC -3'
Sequencing Primer
(F):5'- GGGCACACTCAGCACCTTTC -3'
(R):5'- ATTAGATACTGCCAGCCCTGC -3'
|
Posted On |
2016-10-05 |