Incidental Mutation 'R5498:Sptbn5'
| ID |
432453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn5
|
| Ensembl Gene |
ENSMUSG00000074899 |
| Gene Name |
spectrin beta, non-erythrocytic 5 |
| Synonyms |
Spnb5, EG640524 |
| MMRRC Submission |
043059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R5498 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 119907119 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 |
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: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
| Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,041,542 (GRCm39) |
W539R |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,165,689 (GRCm39) |
Y297C |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
| Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
| Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,404,856 (GRCm39) |
|
probably null |
Het |
| Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
| Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
| Yars2 |
T |
A |
16: 16,124,387 (GRCm39) |
H331Q |
possibly damaging |
Het |
| Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
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 |
|
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 |
|
|
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'- AATGCTTAGAGCTAGCAGGTC -3'
(R):5'- TGCAGAAACACAAGGTCTCC -3'
Sequencing Primer
(F):5'- GCTTAGAGCTAGCAGGTCCCAATAC -3'
(R):5'- AAGGTCTCCACTCCCTTGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation