Incidental Mutation 'R5141:Sptbn5'
ID |
396442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptbn5
|
Ensembl Gene |
ENSMUSG00000074899 |
Gene Name |
spectrin beta, non-erythrocytic 5 |
Synonyms |
Spnb5, EG640524 |
MMRRC Submission |
042727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.225)
|
Stock # |
R5141 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119871974-119916159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119892212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 1083
(S1083F)
|
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
AA Change: S1083F
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106384 Gene: ENSMUSG00000074899 AA Change: S1083F
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: 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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (76/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
G |
14: 68,810,577 (GRCm39) |
V193A |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,501,902 (GRCm39) |
T320S |
probably damaging |
Het |
Adamtsl1 |
G |
T |
4: 86,075,087 (GRCm39) |
M151I |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,037 (GRCm39) |
V5986E |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,317,586 (GRCm39) |
E69G |
probably damaging |
Het |
Akap13 |
C |
A |
7: 75,259,362 (GRCm39) |
T662K |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,414 (GRCm39) |
D1080G |
probably benign |
Het |
Als2 |
T |
C |
1: 59,209,611 (GRCm39) |
E1457G |
possibly damaging |
Het |
Apobec4 |
A |
G |
1: 152,631,964 (GRCm39) |
|
probably benign |
Het |
Apoo-ps |
C |
T |
13: 107,550,895 (GRCm39) |
|
noncoding transcript |
Het |
Aspscr1 |
G |
A |
11: 120,580,003 (GRCm39) |
V181I |
probably benign |
Het |
Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
C3 |
T |
A |
17: 57,526,570 (GRCm39) |
I804F |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,361,760 (GRCm39) |
G421R |
probably benign |
Het |
Chmp4c |
A |
G |
3: 10,432,213 (GRCm39) |
E41G |
probably damaging |
Het |
Clk4 |
T |
A |
11: 51,166,598 (GRCm39) |
F96L |
possibly damaging |
Het |
Ctsg |
G |
A |
14: 56,339,184 (GRCm39) |
R25* |
probably null |
Het |
Cul1 |
A |
G |
6: 47,497,773 (GRCm39) |
D618G |
probably benign |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dip2a |
G |
A |
10: 76,106,287 (GRCm39) |
T1326I |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,296,600 (GRCm39) |
I210V |
probably benign |
Het |
Gm5773 |
T |
A |
3: 93,681,034 (GRCm39) |
D235E |
probably benign |
Het |
Gm7353 |
T |
C |
7: 3,161,001 (GRCm39) |
|
noncoding transcript |
Het |
Gpi1 |
G |
A |
7: 33,926,521 (GRCm39) |
|
probably benign |
Het |
Ing4 |
T |
C |
6: 125,016,837 (GRCm39) |
M5T |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,168 (GRCm39) |
I583V |
probably benign |
Het |
Isyna1 |
T |
C |
8: 71,047,543 (GRCm39) |
V64A |
probably damaging |
Het |
Katnal2 |
T |
A |
18: 77,085,337 (GRCm39) |
D310V |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,098,820 (GRCm39) |
T126A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,906,197 (GRCm39) |
D582G |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,235,810 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,382,693 (GRCm39) |
|
probably null |
Het |
Lrp4 |
T |
C |
2: 91,309,023 (GRCm39) |
|
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,169,209 (GRCm39) |
D71A |
possibly damaging |
Het |
Mak |
C |
T |
13: 41,186,039 (GRCm39) |
C543Y |
possibly damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,110 (GRCm39) |
D404G |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,071,467 (GRCm39) |
E385K |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,789,440 (GRCm39) |
I573N |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,368,479 (GRCm39) |
N2365K |
possibly damaging |
Het |
Ncan |
T |
C |
8: 70,565,487 (GRCm39) |
E179G |
probably damaging |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or10d5 |
T |
G |
9: 39,861,170 (GRCm39) |
K299T |
probably benign |
Het |
Or4c122 |
A |
C |
2: 89,079,473 (GRCm39) |
Y176* |
probably null |
Het |
Or8g20 |
A |
G |
9: 39,395,827 (GRCm39) |
F238L |
probably damaging |
Het |
Pcolce |
G |
T |
5: 137,604,012 (GRCm39) |
Q352K |
probably benign |
Het |
Peg3 |
G |
T |
7: 6,712,381 (GRCm39) |
T947N |
probably benign |
Het |
Pld3 |
C |
T |
7: 27,233,220 (GRCm39) |
D344N |
probably damaging |
Het |
Plec |
A |
C |
15: 76,074,733 (GRCm39) |
D411E |
probably damaging |
Het |
Pmp2 |
C |
T |
3: 10,247,474 (GRCm39) |
D72N |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,943,960 (GRCm39) |
V278A |
possibly damaging |
Het |
Rbm33 |
A |
G |
5: 28,557,687 (GRCm39) |
H300R |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,987,546 (GRCm39) |
Q837R |
probably benign |
Het |
Rwdd4a |
T |
C |
8: 48,003,709 (GRCm39) |
|
probably benign |
Het |
Sema6a |
T |
C |
18: 47,381,455 (GRCm39) |
T1048A |
probably damaging |
Het |
Senp1 |
G |
A |
15: 97,974,488 (GRCm39) |
A108V |
probably benign |
Het |
Serpine2 |
G |
T |
1: 79,780,580 (GRCm39) |
Q290K |
possibly damaging |
Het |
Sesn1 |
A |
G |
10: 41,687,097 (GRCm39) |
N27S |
probably benign |
Het |
Shroom1 |
T |
A |
11: 53,354,809 (GRCm39) |
L243* |
probably null |
Het |
Slc17a5 |
A |
G |
9: 78,448,270 (GRCm39) |
Y395H |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,755,422 (GRCm39) |
|
probably null |
Het |
Stx4a |
T |
A |
7: 127,445,787 (GRCm39) |
V231E |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,287,145 (GRCm39) |
S116T |
probably benign |
Het |
Syt9 |
C |
T |
7: 107,103,426 (GRCm39) |
T408I |
probably damaging |
Het |
Tgm7 |
T |
C |
2: 120,931,480 (GRCm39) |
T228A |
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,415,141 (GRCm39) |
D310G |
probably benign |
Het |
Trcg1 |
G |
A |
9: 57,148,587 (GRCm39) |
G53D |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,865,482 (GRCm39) |
K100E |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,446 (GRCm39) |
T587A |
probably damaging |
Het |
Vcpip1 |
G |
T |
1: 9,818,302 (GRCm39) |
A27E |
unknown |
Het |
Vmn2r49 |
T |
C |
7: 9,720,300 (GRCm39) |
N397S |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,956,572 (GRCm39) |
S17P |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,226,102 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,998,114 (GRCm39) |
S1094T |
probably benign |
Het |
Zbtb22 |
C |
G |
17: 34,137,610 (GRCm39) |
S585C |
possibly damaging |
Het |
Zhx2 |
A |
G |
15: 57,685,182 (GRCm39) |
T184A |
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 |
|
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'- CCTTTGAGGAGAGACTGATGG -3'
(R):5'- ACAAGCCCTGAGTCAGACAG -3'
Sequencing Primer
(F):5'- GCAGCCTAAGGGAGGGC -3'
(R):5'- CCTGAGTCAGACAGCTTGATG -3'
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Posted On |
2016-06-21 |