Incidental Mutation 'R1131:Spta1'
ID | 94579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spta1
|
Ensembl Gene |
ENSMUSG00000026532 |
Gene Name | spectrin alpha, erythrocytic 1 |
Synonyms | erythroid, Spna-1, ihj, Spna1 |
MMRRC Submission |
039204-MU
|
Accession Numbers | |
Is this an essential gene? |
Probably essential (E-score: 0.816)
|
Stock # | R1131 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 1 |
Chromosomal Location | 174172776-174248450 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to A
at 174185647 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 375
(S375T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027817]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027817
AA Change: S375T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027817 Gene: ENSMUSG00000026532 AA Change: S375T
Domain | Start | End | E-Value | Type |
SPEC
|
55 |
153 |
3.62e-11 |
SMART |
SPEC
|
159 |
259 |
1.84e-26 |
SMART |
SPEC
|
265 |
365 |
1.56e-24 |
SMART |
SPEC
|
371 |
471 |
8.35e-25 |
SMART |
SPEC
|
477 |
577 |
1.19e-29 |
SMART |
SPEC
|
583 |
682 |
2.43e-26 |
SMART |
SPEC
|
688 |
788 |
1.3e-26 |
SMART |
SPEC
|
794 |
894 |
1.66e-28 |
SMART |
SPEC
|
900 |
1077 |
5.03e-19 |
SMART |
SH3
|
978 |
1033 |
2.98e-15 |
SMART |
SPEC
|
1083 |
1178 |
2.57e-16 |
SMART |
SPEC
|
1184 |
1284 |
1.15e-27 |
SMART |
SPEC
|
1290 |
1390 |
7.05e-23 |
SMART |
SPEC
|
1396 |
1495 |
6.04e-22 |
SMART |
SPEC
|
1501 |
1602 |
1.15e-27 |
SMART |
SPEC
|
1608 |
1708 |
5.46e-29 |
SMART |
SPEC
|
1714 |
1814 |
1.08e-32 |
SMART |
SPEC
|
1820 |
1921 |
2.17e-23 |
SMART |
SPEC
|
1927 |
2028 |
2.19e-19 |
SMART |
SPEC
|
2042 |
2142 |
3.87e-11 |
SMART |
SPEC
|
2156 |
2253 |
9.77e-8 |
SMART |
low complexity region
|
2307 |
2318 |
N/A |
INTRINSIC |
efhand_Ca_insen
|
2346 |
2414 |
2.37e-27 |
SMART |
|
Meta Mutation Damage Score |
0.1118
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
G |
T |
3: 146,651,082 |
H24N |
probably damaging |
Het |
Ano7 |
T |
C |
1: 93,401,776 |
F723L |
probably benign |
Het |
Clec9a |
T |
G |
6: 129,410,315 |
C44W |
probably damaging |
Het |
Commd7 |
T |
A |
2: 153,622,127 |
Q44L |
probably benign |
Het |
Ddias |
A |
T |
7: 92,859,886 |
S274T |
possibly damaging |
Het |
Fnip1 |
A |
T |
11: 54,493,303 |
E342V |
possibly damaging |
Het |
Gata4 |
A |
G |
14: 63,204,740 |
F210S |
possibly damaging |
Het |
Ggt6 |
A |
G |
11: 72,435,680 |
E21G |
possibly damaging |
Het |
Gzf1 |
A |
G |
2: 148,690,867 |
N647S |
probably benign |
Het |
Hnrnpk |
T |
C |
13: 58,394,165 |
|
probably null |
Het |
Lgr6 |
G |
A |
1: 134,987,304 |
R569W |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,861,185 |
I458N |
probably benign |
Het |
Mzf1 |
C |
A |
7: 13,052,771 |
R124L |
possibly damaging |
Het |
Olfr559 |
C |
A |
7: 102,723,680 |
R270L |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,835,002 |
E331K |
probably damaging |
Het |
Tcirg1 |
A |
G |
19: 3,896,301 |
S799P |
probably damaging |
Het |
Tnrc18 |
T |
A |
5: 142,787,208 |
D439V |
unknown |
Het |
Tnrc6b |
A |
T |
15: 80,894,453 |
Q1209L |
possibly damaging |
Het |
Trim24 |
T |
A |
6: 37,957,782 |
C811S |
probably damaging |
Het |
Ttc7b |
A |
T |
12: 100,382,119 |
|
probably null |
Het |
Vmn1r42 |
A |
T |
6: 89,845,569 |
F6Y |
possibly damaging |
Het |
|
Other mutations in Spta1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00979:Spta1
|
APN |
1 |
174208390 |
nonsense |
probably null |
|
IGL01095:Spta1
|
APN |
1 |
174213485 |
missense |
probably benign |
0.02 |
IGL01144:Spta1
|
APN |
1 |
174187263 |
missense |
probably benign |
0.05 |
IGL01455:Spta1
|
APN |
1 |
174203311 |
missense |
possibly damaging |
0.78 |
IGL01541:Spta1
|
APN |
1 |
174217159 |
missense |
probably benign |
0.03 |
IGL01613:Spta1
|
APN |
1 |
174208394 |
missense |
probably damaging |
1.00 |
IGL01804:Spta1
|
APN |
1 |
174244180 |
missense |
probably benign |
0.42 |
IGL01859:Spta1
|
APN |
1 |
174174372 |
missense |
probably damaging |
1.00 |
IGL01898:Spta1
|
APN |
1 |
174213862 |
missense |
probably benign |
0.00 |
IGL02106:Spta1
|
APN |
1 |
174203294 |
missense |
probably benign |
0.02 |
IGL02166:Spta1
|
APN |
1 |
174190231 |
missense |
probably damaging |
1.00 |
IGL02224:Spta1
|
APN |
1 |
174217689 |
critical splice donor site |
probably benign |
|
IGL02318:Spta1
|
APN |
1 |
174174463 |
missense |
possibly damaging |
0.51 |
IGL02392:Spta1
|
APN |
1 |
174218814 |
missense |
probably damaging |
0.96 |
IGL02852:Spta1
|
APN |
1 |
174244110 |
missense |
probably benign |
0.24 |
IGL02861:Spta1
|
APN |
1 |
174211598 |
missense |
probably damaging |
1.00 |
IGL02982:Spta1
|
APN |
1 |
174187288 |
missense |
probably benign |
0.00 |
IGL03057:Spta1
|
APN |
1 |
174181058 |
missense |
probably benign |
0.19 |
IGL03215:Spta1
|
APN |
1 |
174218743 |
missense |
probably damaging |
1.00 |
IGL03263:Spta1
|
APN |
1 |
174213918 |
missense |
probably damaging |
0.99 |
IGL03272:Spta1
|
APN |
1 |
174214144 |
missense |
probably benign |
0.08 |
Deflection
|
UTSW |
1 |
174241087 |
missense |
probably damaging |
1.00 |
Goldfoil
|
UTSW |
1 |
174218512 |
missense |
probably damaging |
1.00 |
H8786:Spta1
|
UTSW |
1 |
174179839 |
missense |
probably damaging |
0.98 |
R0003:Spta1
|
UTSW |
1 |
174205273 |
missense |
probably damaging |
0.98 |
R0003:Spta1
|
UTSW |
1 |
174205273 |
missense |
probably damaging |
0.98 |
R0010:Spta1
|
UTSW |
1 |
174217943 |
missense |
probably benign |
0.03 |
R0010:Spta1
|
UTSW |
1 |
174217943 |
missense |
probably benign |
0.03 |
R0078:Spta1
|
UTSW |
1 |
174207032 |
splice site |
probably benign |
|
R0172:Spta1
|
UTSW |
1 |
174230786 |
missense |
probably damaging |
1.00 |
R0206:Spta1
|
UTSW |
1 |
174192960 |
missense |
probably damaging |
1.00 |
R0208:Spta1
|
UTSW |
1 |
174192960 |
missense |
probably damaging |
1.00 |
R0276:Spta1
|
UTSW |
1 |
174217894 |
missense |
probably damaging |
1.00 |
R0288:Spta1
|
UTSW |
1 |
174243179 |
missense |
probably damaging |
0.99 |
R0323:Spta1
|
UTSW |
1 |
174218451 |
missense |
probably damaging |
1.00 |
R0454:Spta1
|
UTSW |
1 |
174213942 |
missense |
probably damaging |
1.00 |
R0508:Spta1
|
UTSW |
1 |
174224457 |
missense |
probably damaging |
1.00 |
R0698:Spta1
|
UTSW |
1 |
174181104 |
missense |
probably damaging |
1.00 |
R0751:Spta1
|
UTSW |
1 |
174184690 |
missense |
probably damaging |
1.00 |
R0925:Spta1
|
UTSW |
1 |
174174426 |
missense |
possibly damaging |
0.85 |
R0941:Spta1
|
UTSW |
1 |
174245205 |
unclassified |
probably benign |
|
R1171:Spta1
|
UTSW |
1 |
174211614 |
nonsense |
probably null |
|
R1184:Spta1
|
UTSW |
1 |
174184690 |
missense |
probably damaging |
1.00 |
R1401:Spta1
|
UTSW |
1 |
174222684 |
missense |
probably damaging |
1.00 |
R1489:Spta1
|
UTSW |
1 |
174231325 |
missense |
probably damaging |
0.97 |
R1532:Spta1
|
UTSW |
1 |
174247353 |
missense |
probably damaging |
0.99 |
R1551:Spta1
|
UTSW |
1 |
174240166 |
missense |
possibly damaging |
0.94 |
R1555:Spta1
|
UTSW |
1 |
174178749 |
missense |
probably damaging |
0.99 |
R1566:Spta1
|
UTSW |
1 |
174184706 |
missense |
probably benign |
0.00 |
R1586:Spta1
|
UTSW |
1 |
174213495 |
missense |
probably benign |
0.00 |
R1676:Spta1
|
UTSW |
1 |
174179839 |
missense |
probably damaging |
0.98 |
R1711:Spta1
|
UTSW |
1 |
174241042 |
missense |
probably damaging |
1.00 |
R1795:Spta1
|
UTSW |
1 |
174245730 |
missense |
probably damaging |
1.00 |
R1823:Spta1
|
UTSW |
1 |
174246549 |
missense |
probably benign |
0.05 |
R1842:Spta1
|
UTSW |
1 |
174195947 |
missense |
probably benign |
0.00 |
R1867:Spta1
|
UTSW |
1 |
174219839 |
missense |
probably benign |
0.33 |
R1970:Spta1
|
UTSW |
1 |
174240367 |
missense |
possibly damaging |
0.88 |
R2042:Spta1
|
UTSW |
1 |
174211647 |
missense |
probably benign |
0.20 |
R2095:Spta1
|
UTSW |
1 |
174244198 |
missense |
possibly damaging |
0.75 |
R2125:Spta1
|
UTSW |
1 |
174208344 |
missense |
possibly damaging |
0.80 |
R2145:Spta1
|
UTSW |
1 |
174212614 |
missense |
probably benign |
0.00 |
R2158:Spta1
|
UTSW |
1 |
174229258 |
missense |
probably benign |
0.41 |
R2187:Spta1
|
UTSW |
1 |
174192966 |
missense |
probably damaging |
1.00 |
R2250:Spta1
|
UTSW |
1 |
174244114 |
missense |
probably damaging |
1.00 |
R2258:Spta1
|
UTSW |
1 |
174174341 |
missense |
possibly damaging |
0.76 |
R2319:Spta1
|
UTSW |
1 |
174178656 |
critical splice acceptor site |
probably null |
|
R3782:Spta1
|
UTSW |
1 |
174208314 |
missense |
probably damaging |
1.00 |
R4058:Spta1
|
UTSW |
1 |
174241137 |
missense |
probably damaging |
1.00 |
R4080:Spta1
|
UTSW |
1 |
174214066 |
missense |
probably benign |
0.00 |
R4081:Spta1
|
UTSW |
1 |
174214066 |
missense |
probably benign |
0.00 |
R4082:Spta1
|
UTSW |
1 |
174214066 |
missense |
probably benign |
0.00 |
R4108:Spta1
|
UTSW |
1 |
174174556 |
missense |
probably benign |
0.01 |
R4115:Spta1
|
UTSW |
1 |
174240357 |
missense |
probably damaging |
1.00 |
R4303:Spta1
|
UTSW |
1 |
174179852 |
missense |
probably damaging |
1.00 |
R4419:Spta1
|
UTSW |
1 |
174247424 |
nonsense |
probably null |
|
R4525:Spta1
|
UTSW |
1 |
174207110 |
missense |
probably null |
1.00 |
R4614:Spta1
|
UTSW |
1 |
174192977 |
missense |
probably damaging |
1.00 |
R4673:Spta1
|
UTSW |
1 |
174191062 |
splice site |
probably null |
|
R4782:Spta1
|
UTSW |
1 |
174230666 |
missense |
probably benign |
0.01 |
R4825:Spta1
|
UTSW |
1 |
174244042 |
critical splice acceptor site |
probably null |
|
R4829:Spta1
|
UTSW |
1 |
174237927 |
missense |
probably benign |
0.01 |
R4873:Spta1
|
UTSW |
1 |
174175830 |
missense |
probably damaging |
1.00 |
R4875:Spta1
|
UTSW |
1 |
174175830 |
missense |
probably damaging |
1.00 |
R4898:Spta1
|
UTSW |
1 |
174237834 |
missense |
possibly damaging |
0.94 |
R4910:Spta1
|
UTSW |
1 |
174217863 |
splice site |
probably null |
|
R4911:Spta1
|
UTSW |
1 |
174185647 |
missense |
probably damaging |
1.00 |
R4928:Spta1
|
UTSW |
1 |
174191056 |
missense |
probably benign |
0.15 |
R4959:Spta1
|
UTSW |
1 |
174246608 |
missense |
probably damaging |
0.97 |
R5009:Spta1
|
UTSW |
1 |
174240223 |
missense |
possibly damaging |
0.62 |
R5149:Spta1
|
UTSW |
1 |
174247434 |
missense |
probably damaging |
0.99 |
R5293:Spta1
|
UTSW |
1 |
174195985 |
missense |
probably damaging |
0.99 |
R5421:Spta1
|
UTSW |
1 |
174215529 |
missense |
probably damaging |
0.99 |
R5457:Spta1
|
UTSW |
1 |
174217193 |
missense |
probably damaging |
1.00 |
R5590:Spta1
|
UTSW |
1 |
174175770 |
missense |
possibly damaging |
0.73 |
R5606:Spta1
|
UTSW |
1 |
174219902 |
missense |
probably damaging |
1.00 |
R5736:Spta1
|
UTSW |
1 |
174214255 |
critical splice donor site |
probably null |
|
R5834:Spta1
|
UTSW |
1 |
174184797 |
splice site |
probably null |
|
R5845:Spta1
|
UTSW |
1 |
174241096 |
missense |
probably damaging |
0.97 |
R5987:Spta1
|
UTSW |
1 |
174223328 |
missense |
probably damaging |
1.00 |
R6102:Spta1
|
UTSW |
1 |
174224520 |
missense |
probably benign |
0.01 |
R6221:Spta1
|
UTSW |
1 |
174181776 |
missense |
probably damaging |
1.00 |
R6276:Spta1
|
UTSW |
1 |
174218512 |
missense |
probably damaging |
1.00 |
R6317:Spta1
|
UTSW |
1 |
174241087 |
missense |
probably damaging |
1.00 |
R6329:Spta1
|
UTSW |
1 |
174214177 |
missense |
possibly damaging |
0.60 |
R6352:Spta1
|
UTSW |
1 |
174211646 |
missense |
possibly damaging |
0.94 |
R6374:Spta1
|
UTSW |
1 |
174214168 |
missense |
probably damaging |
1.00 |
R6376:Spta1
|
UTSW |
1 |
174203322 |
missense |
probably benign |
|
R6387:Spta1
|
UTSW |
1 |
174231333 |
missense |
probably benign |
0.01 |
R6451:Spta1
|
UTSW |
1 |
174217201 |
missense |
probably damaging |
0.97 |
R6480:Spta1
|
UTSW |
1 |
174187148 |
splice site |
probably null |
|
R6533:Spta1
|
UTSW |
1 |
174244147 |
missense |
probably damaging |
1.00 |
R6585:Spta1
|
UTSW |
1 |
174178685 |
missense |
probably damaging |
1.00 |
R6695:Spta1
|
UTSW |
1 |
174244042 |
critical splice acceptor site |
probably null |
|
R6945:Spta1
|
UTSW |
1 |
174209325 |
missense |
possibly damaging |
0.89 |
R7020:Spta1
|
UTSW |
1 |
174209352 |
missense |
probably damaging |
1.00 |
R7086:Spta1
|
UTSW |
1 |
174199484 |
missense |
probably damaging |
0.98 |
R7087:Spta1
|
UTSW |
1 |
174174510 |
missense |
probably benign |
|
R7151:Spta1
|
UTSW |
1 |
174197751 |
missense |
probably damaging |
1.00 |
R7193:Spta1
|
UTSW |
1 |
174184612 |
missense |
probably damaging |
1.00 |
R7199:Spta1
|
UTSW |
1 |
174223271 |
missense |
possibly damaging |
0.61 |
R7219:Spta1
|
UTSW |
1 |
174222637 |
missense |
probably damaging |
0.96 |
R7343:Spta1
|
UTSW |
1 |
174223349 |
missense |
probably damaging |
0.99 |
R7372:Spta1
|
UTSW |
1 |
174197635 |
nonsense |
probably null |
|
R7472:Spta1
|
UTSW |
1 |
174246499 |
missense |
probably damaging |
1.00 |
R7516:Spta1
|
UTSW |
1 |
174197783 |
missense |
probably damaging |
1.00 |
R7627:Spta1
|
UTSW |
1 |
174205378 |
missense |
probably damaging |
1.00 |
R7770:Spta1
|
UTSW |
1 |
174195981 |
nonsense |
probably null |
|
R7784:Spta1
|
UTSW |
1 |
174202451 |
missense |
probably damaging |
1.00 |
R7804:Spta1
|
UTSW |
1 |
174195905 |
missense |
possibly damaging |
0.50 |
R7854:Spta1
|
UTSW |
1 |
174218830 |
critical splice donor site |
probably null |
|
R7862:Spta1
|
UTSW |
1 |
174197785 |
critical splice donor site |
probably null |
|
R7958:Spta1
|
UTSW |
1 |
174174390 |
missense |
probably benign |
0.03 |
R8015:Spta1
|
UTSW |
1 |
174240171 |
missense |
probably damaging |
1.00 |
R8059:Spta1
|
UTSW |
1 |
174218370 |
intron |
probably benign |
|
R8076:Spta1
|
UTSW |
1 |
174187231 |
missense |
probably benign |
0.00 |
R8152:Spta1
|
UTSW |
1 |
174217944 |
missense |
probably benign |
0.03 |
R8235:Spta1
|
UTSW |
1 |
174202386 |
missense |
probably damaging |
1.00 |
R8284:Spta1
|
UTSW |
1 |
174179821 |
missense |
probably benign |
0.00 |
R8298:Spta1
|
UTSW |
1 |
174247387 |
missense |
probably damaging |
1.00 |
R8312:Spta1
|
UTSW |
1 |
174240211 |
missense |
probably damaging |
1.00 |
R8495:Spta1
|
UTSW |
1 |
174215485 |
missense |
probably benign |
0.00 |
R8550:Spta1
|
UTSW |
1 |
174187208 |
missense |
probably damaging |
1.00 |
RF002:Spta1
|
UTSW |
1 |
174231360 |
missense |
possibly damaging |
0.62 |
RF018:Spta1
|
UTSW |
1 |
174209319 |
missense |
probably damaging |
1.00 |
RF020:Spta1
|
UTSW |
1 |
174213444 |
missense |
probably benign |
0.42 |
RF020:Spta1
|
UTSW |
1 |
174217903 |
missense |
probably damaging |
1.00 |
T0722:Spta1
|
UTSW |
1 |
174191066 |
splice site |
probably benign |
|
X0028:Spta1
|
UTSW |
1 |
174224450 |
missense |
probably damaging |
1.00 |
Z1176:Spta1
|
UTSW |
1 |
174191051 |
missense |
probably damaging |
1.00 |
Z1176:Spta1
|
UTSW |
1 |
174240367 |
missense |
probably damaging |
0.99 |
Z1177:Spta1
|
UTSW |
1 |
174190162 |
missense |
probably benign |
0.09 |
Z1177:Spta1
|
UTSW |
1 |
174245689 |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACAACAGGAGTTGTTTTGGAGTCAG -3'
(R):5'- ATTCTGCTAGGGAAGCCGTTGC -3'
Sequencing Primer
(F):5'- catacacacacacacacacac -3'
(R):5'- GGAAGCCGTTGCTTCTTAC -3'
|
Posted On | 2014-01-05 |