Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Spta1'

288138

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spta1

Ensembl Gene

ENSMUSG00000026532

Gene Name

spectrin alpha, erythrocytic 1

Synonyms

erythroid, Spna-1, ihj, Spna1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

174172776-174248450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174174463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 53 (H53R)

Ref Sequence

ENSEMBL: ENSMUSP00000027817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027817]

AlphaFold

P08032

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027817
AA Change: H53R

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027817
Gene: ENSMUSG00000026532
AA Change: H53R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201957

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576 (GRCm38)	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025 (GRCm38)	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799 (GRCm38)		probably null	Het
Abhd18	G	A	3: 40,930,227 (GRCm38)		probably null	Het
Akr1c6	G	T	13: 4,438,497 (GRCm38)	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775 (GRCm38)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294 (GRCm38)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163 (GRCm38)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331 (GRCm38)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,728,154 (GRCm38)	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221 (GRCm38)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039 (GRCm38)	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159 (GRCm38)	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478 (GRCm38)		probably null	Het
Cpne9	A	G	6: 113,293,738 (GRCm38)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243 (GRCm38)	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743 (GRCm38)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464 (GRCm38)	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710 (GRCm38)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719 (GRCm38)	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366 (GRCm38)	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258 (GRCm38)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975 (GRCm38)	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097 (GRCm38)	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639 (GRCm38)		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788 (GRCm38)	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225 (GRCm38)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm38)	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803 (GRCm38)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650 (GRCm38)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238 (GRCm38)		probably null	Het
Inpp4a	T	C	1: 37,368,303 (GRCm38)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926 (GRCm38)	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066 (GRCm38)		probably benign	Het
Luc7l3	C	T	11: 94,292,993 (GRCm38)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741 (GRCm38)	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124 (GRCm38)	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271 (GRCm38)	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918 (GRCm38)		probably null	Het
Nxf1	G	A	19: 8,764,150 (GRCm38)		probably null	Het
Olfr134	G	T	17: 38,175,686 (GRCm38)	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268 (GRCm38)	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343 (GRCm38)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873 (GRCm38)	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597 (GRCm38)	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111 (GRCm38)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970 (GRCm38)	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080 (GRCm38)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm38)		probably benign	Het
Sall2	T	C	14: 52,315,565 (GRCm38)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541 (GRCm38)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,073,239 (GRCm38)	A281T	probably damaging	Het
Thbs4	T	C	13: 92,763,584 (GRCm38)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782 (GRCm38)	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408 (GRCm38)	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467 (GRCm38)	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597 (GRCm38)	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397 (GRCm38)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836 (GRCm38)	V716A	probably benign	Het

Other mutations in Spta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Spta1	APN	1	174,208,390 (GRCm38)	nonsense	probably null
IGL01095:Spta1	APN	1	174,213,485 (GRCm38)	missense	probably benign	0.02
IGL01144:Spta1	APN	1	174,187,263 (GRCm38)	missense	probably benign	0.05
IGL01455:Spta1	APN	1	174,203,311 (GRCm38)	missense	possibly damaging	0.78
IGL01541:Spta1	APN	1	174,217,159 (GRCm38)	missense	probably benign	0.03
IGL01613:Spta1	APN	1	174,208,394 (GRCm38)	missense	probably damaging	1.00
IGL01804:Spta1	APN	1	174,244,180 (GRCm38)	missense	probably benign	0.42
IGL01859:Spta1	APN	1	174,174,372 (GRCm38)	missense	probably damaging	1.00
IGL01898:Spta1	APN	1	174,213,862 (GRCm38)	missense	probably benign	0.00
IGL02106:Spta1	APN	1	174,203,294 (GRCm38)	missense	probably benign	0.02
IGL02166:Spta1	APN	1	174,190,231 (GRCm38)	missense	probably damaging	1.00
IGL02224:Spta1	APN	1	174,217,689 (GRCm38)	critical splice donor site	probably benign
IGL02392:Spta1	APN	1	174,218,814 (GRCm38)	missense	probably damaging	0.96
IGL02852:Spta1	APN	1	174,244,110 (GRCm38)	missense	probably benign	0.24
IGL02861:Spta1	APN	1	174,211,598 (GRCm38)	missense	probably damaging	1.00
IGL02982:Spta1	APN	1	174,187,288 (GRCm38)	missense	probably benign	0.00
IGL03057:Spta1	APN	1	174,181,058 (GRCm38)	missense	probably benign	0.19
IGL03215:Spta1	APN	1	174,218,743 (GRCm38)	missense	probably damaging	1.00
IGL03263:Spta1	APN	1	174,213,918 (GRCm38)	missense	probably damaging	0.99
IGL03272:Spta1	APN	1	174,214,144 (GRCm38)	missense	probably benign	0.08
bounced	UTSW	1	174,224,457 (GRCm38)	missense	probably damaging	1.00
Capillus	UTSW	1	174,217,688 (GRCm38)	critical splice donor site	probably null
Deflection	UTSW	1	174,241,087 (GRCm38)	missense	probably damaging	1.00
Goldfoil	UTSW	1	174,218,512 (GRCm38)	missense	probably damaging	1.00
hanging	UTSW	1	174,178,749 (GRCm38)	missense	probably damaging	0.99
Klimt	UTSW	1	174,202,386 (GRCm38)	missense	probably damaging	1.00
Rutherford	UTSW	1	174,207,110 (GRCm38)	missense	probably null	1.00
Thread	UTSW	1	174,197,635 (GRCm38)	nonsense	probably null
H8786:Spta1	UTSW	1	174,179,839 (GRCm38)	missense	probably damaging	0.98
R0003:Spta1	UTSW	1	174,205,273 (GRCm38)	missense	probably damaging	0.98
R0003:Spta1	UTSW	1	174,205,273 (GRCm38)	missense	probably damaging	0.98
R0010:Spta1	UTSW	1	174,217,943 (GRCm38)	missense	probably benign	0.03
R0010:Spta1	UTSW	1	174,217,943 (GRCm38)	missense	probably benign	0.03
R0078:Spta1	UTSW	1	174,207,032 (GRCm38)	splice site	probably benign
R0172:Spta1	UTSW	1	174,230,786 (GRCm38)	missense	probably damaging	1.00
R0206:Spta1	UTSW	1	174,192,960 (GRCm38)	missense	probably damaging	1.00
R0208:Spta1	UTSW	1	174,192,960 (GRCm38)	missense	probably damaging	1.00
R0276:Spta1	UTSW	1	174,217,894 (GRCm38)	missense	probably damaging	1.00
R0288:Spta1	UTSW	1	174,243,179 (GRCm38)	missense	probably damaging	0.99
R0323:Spta1	UTSW	1	174,218,451 (GRCm38)	missense	probably damaging	1.00
R0454:Spta1	UTSW	1	174,213,942 (GRCm38)	missense	probably damaging	1.00
R0508:Spta1	UTSW	1	174,224,457 (GRCm38)	missense	probably damaging	1.00
R0698:Spta1	UTSW	1	174,181,104 (GRCm38)	missense	probably damaging	1.00
R0751:Spta1	UTSW	1	174,184,690 (GRCm38)	missense	probably damaging	1.00
R0925:Spta1	UTSW	1	174,174,426 (GRCm38)	missense	possibly damaging	0.85
R0941:Spta1	UTSW	1	174,245,205 (GRCm38)	unclassified	probably benign
R1131:Spta1	UTSW	1	174,185,647 (GRCm38)	missense	probably damaging	1.00
R1171:Spta1	UTSW	1	174,211,614 (GRCm38)	nonsense	probably null
R1184:Spta1	UTSW	1	174,184,690 (GRCm38)	missense	probably damaging	1.00
R1401:Spta1	UTSW	1	174,222,684 (GRCm38)	missense	probably damaging	1.00
R1489:Spta1	UTSW	1	174,231,325 (GRCm38)	missense	probably damaging	0.97
R1532:Spta1	UTSW	1	174,247,353 (GRCm38)	missense	probably damaging	0.99
R1551:Spta1	UTSW	1	174,240,166 (GRCm38)	missense	possibly damaging	0.94
R1555:Spta1	UTSW	1	174,178,749 (GRCm38)	missense	probably damaging	0.99
R1566:Spta1	UTSW	1	174,184,706 (GRCm38)	missense	probably benign	0.00
R1586:Spta1	UTSW	1	174,213,495 (GRCm38)	missense	probably benign	0.00
R1676:Spta1	UTSW	1	174,179,839 (GRCm38)	missense	probably damaging	0.98
R1711:Spta1	UTSW	1	174,241,042 (GRCm38)	missense	probably damaging	1.00
R1795:Spta1	UTSW	1	174,245,730 (GRCm38)	missense	probably damaging	1.00
R1823:Spta1	UTSW	1	174,246,549 (GRCm38)	missense	probably benign	0.05
R1842:Spta1	UTSW	1	174,195,947 (GRCm38)	missense	probably benign	0.00
R1867:Spta1	UTSW	1	174,219,839 (GRCm38)	missense	probably benign	0.33
R1970:Spta1	UTSW	1	174,240,367 (GRCm38)	missense	possibly damaging	0.88
R2042:Spta1	UTSW	1	174,211,647 (GRCm38)	missense	probably benign	0.20
R2095:Spta1	UTSW	1	174,244,198 (GRCm38)	missense	possibly damaging	0.75
R2125:Spta1	UTSW	1	174,208,344 (GRCm38)	missense	possibly damaging	0.80
R2145:Spta1	UTSW	1	174,212,614 (GRCm38)	missense	probably benign	0.00
R2158:Spta1	UTSW	1	174,229,258 (GRCm38)	missense	probably benign	0.41
R2187:Spta1	UTSW	1	174,192,966 (GRCm38)	missense	probably damaging	1.00
R2250:Spta1	UTSW	1	174,244,114 (GRCm38)	missense	probably damaging	1.00
R2258:Spta1	UTSW	1	174,174,341 (GRCm38)	missense	possibly damaging	0.76
R2319:Spta1	UTSW	1	174,178,656 (GRCm38)	critical splice acceptor site	probably null
R3782:Spta1	UTSW	1	174,208,314 (GRCm38)	missense	probably damaging	1.00
R4058:Spta1	UTSW	1	174,241,137 (GRCm38)	missense	probably damaging	1.00
R4080:Spta1	UTSW	1	174,214,066 (GRCm38)	missense	probably benign	0.00
R4081:Spta1	UTSW	1	174,214,066 (GRCm38)	missense	probably benign	0.00
R4082:Spta1	UTSW	1	174,214,066 (GRCm38)	missense	probably benign	0.00
R4108:Spta1	UTSW	1	174,174,556 (GRCm38)	missense	probably benign	0.01
R4115:Spta1	UTSW	1	174,240,357 (GRCm38)	missense	probably damaging	1.00
R4303:Spta1	UTSW	1	174,179,852 (GRCm38)	missense	probably damaging	1.00
R4419:Spta1	UTSW	1	174,247,424 (GRCm38)	nonsense	probably null
R4525:Spta1	UTSW	1	174,207,110 (GRCm38)	missense	probably null	1.00
R4614:Spta1	UTSW	1	174,192,977 (GRCm38)	missense	probably damaging	1.00
R4673:Spta1	UTSW	1	174,191,062 (GRCm38)	splice site	probably null
R4782:Spta1	UTSW	1	174,230,666 (GRCm38)	missense	probably benign	0.01
R4825:Spta1	UTSW	1	174,244,042 (GRCm38)	critical splice acceptor site	probably null
R4829:Spta1	UTSW	1	174,237,927 (GRCm38)	missense	probably benign	0.01
R4873:Spta1	UTSW	1	174,175,830 (GRCm38)	missense	probably damaging	1.00
R4875:Spta1	UTSW	1	174,175,830 (GRCm38)	missense	probably damaging	1.00
R4898:Spta1	UTSW	1	174,237,834 (GRCm38)	missense	possibly damaging	0.94
R4910:Spta1	UTSW	1	174,217,863 (GRCm38)	splice site	probably null
R4911:Spta1	UTSW	1	174,185,647 (GRCm38)	missense	probably damaging	1.00
R4928:Spta1	UTSW	1	174,191,056 (GRCm38)	missense	probably benign	0.15
R4959:Spta1	UTSW	1	174,246,608 (GRCm38)	missense	probably damaging	0.97
R5009:Spta1	UTSW	1	174,240,223 (GRCm38)	missense	possibly damaging	0.62
R5149:Spta1	UTSW	1	174,247,434 (GRCm38)	missense	probably damaging	0.99
R5293:Spta1	UTSW	1	174,195,985 (GRCm38)	missense	probably damaging	0.99
R5421:Spta1	UTSW	1	174,215,529 (GRCm38)	missense	probably damaging	0.99
R5457:Spta1	UTSW	1	174,217,193 (GRCm38)	missense	probably damaging	1.00
R5590:Spta1	UTSW	1	174,175,770 (GRCm38)	missense	possibly damaging	0.73
R5606:Spta1	UTSW	1	174,219,902 (GRCm38)	missense	probably damaging	1.00
R5736:Spta1	UTSW	1	174,214,255 (GRCm38)	critical splice donor site	probably null
R5834:Spta1	UTSW	1	174,184,797 (GRCm38)	splice site	probably null
R5845:Spta1	UTSW	1	174,241,096 (GRCm38)	missense	probably damaging	0.97
R5987:Spta1	UTSW	1	174,223,328 (GRCm38)	missense	probably damaging	1.00
R6102:Spta1	UTSW	1	174,224,520 (GRCm38)	missense	probably benign	0.01
R6221:Spta1	UTSW	1	174,181,776 (GRCm38)	missense	probably damaging	1.00
R6276:Spta1	UTSW	1	174,218,512 (GRCm38)	missense	probably damaging	1.00
R6317:Spta1	UTSW	1	174,241,087 (GRCm38)	missense	probably damaging	1.00
R6329:Spta1	UTSW	1	174,214,177 (GRCm38)	missense	possibly damaging	0.60
R6352:Spta1	UTSW	1	174,211,646 (GRCm38)	missense	possibly damaging	0.94
R6374:Spta1	UTSW	1	174,214,168 (GRCm38)	missense	probably damaging	1.00
R6376:Spta1	UTSW	1	174,203,322 (GRCm38)	missense	probably benign
R6387:Spta1	UTSW	1	174,231,333 (GRCm38)	missense	probably benign	0.01
R6451:Spta1	UTSW	1	174,217,201 (GRCm38)	missense	probably damaging	0.97
R6480:Spta1	UTSW	1	174,187,148 (GRCm38)	splice site	probably null
R6533:Spta1	UTSW	1	174,244,147 (GRCm38)	missense	probably damaging	1.00
R6585:Spta1	UTSW	1	174,178,685 (GRCm38)	missense	probably damaging	1.00
R6695:Spta1	UTSW	1	174,244,042 (GRCm38)	critical splice acceptor site	probably null
R6945:Spta1	UTSW	1	174,209,325 (GRCm38)	missense	possibly damaging	0.89
R7020:Spta1	UTSW	1	174,209,352 (GRCm38)	missense	probably damaging	1.00
R7086:Spta1	UTSW	1	174,199,484 (GRCm38)	missense	probably damaging	0.98
R7087:Spta1	UTSW	1	174,174,510 (GRCm38)	missense	probably benign
R7151:Spta1	UTSW	1	174,197,751 (GRCm38)	missense	probably damaging	1.00
R7193:Spta1	UTSW	1	174,184,612 (GRCm38)	missense	probably damaging	1.00
R7199:Spta1	UTSW	1	174,223,271 (GRCm38)	missense	possibly damaging	0.61
R7219:Spta1	UTSW	1	174,222,637 (GRCm38)	missense	probably damaging	0.96
R7343:Spta1	UTSW	1	174,223,349 (GRCm38)	missense	probably damaging	0.99
R7372:Spta1	UTSW	1	174,197,635 (GRCm38)	nonsense	probably null
R7472:Spta1	UTSW	1	174,246,499 (GRCm38)	missense	probably damaging	1.00
R7516:Spta1	UTSW	1	174,197,783 (GRCm38)	missense	probably damaging	1.00
R7627:Spta1	UTSW	1	174,205,378 (GRCm38)	missense	probably damaging	1.00
R7770:Spta1	UTSW	1	174,195,981 (GRCm38)	nonsense	probably null
R7784:Spta1	UTSW	1	174,202,451 (GRCm38)	missense	probably damaging	1.00
R7804:Spta1	UTSW	1	174,195,905 (GRCm38)	missense	possibly damaging	0.50
R7854:Spta1	UTSW	1	174,218,830 (GRCm38)	critical splice donor site	probably null
R7862:Spta1	UTSW	1	174,197,785 (GRCm38)	critical splice donor site	probably null
R7958:Spta1	UTSW	1	174,174,390 (GRCm38)	missense	probably benign	0.03
R8015:Spta1	UTSW	1	174,240,171 (GRCm38)	missense	probably damaging	1.00
R8059:Spta1	UTSW	1	174,218,370 (GRCm38)	intron	probably benign
R8076:Spta1	UTSW	1	174,187,231 (GRCm38)	missense	probably benign	0.00
R8152:Spta1	UTSW	1	174,217,944 (GRCm38)	missense	probably benign	0.03
R8235:Spta1	UTSW	1	174,202,386 (GRCm38)	missense	probably damaging	1.00
R8284:Spta1	UTSW	1	174,179,821 (GRCm38)	missense	probably benign	0.00
R8298:Spta1	UTSW	1	174,247,387 (GRCm38)	missense	probably damaging	1.00
R8312:Spta1	UTSW	1	174,240,211 (GRCm38)	missense	probably damaging	1.00
R8495:Spta1	UTSW	1	174,215,485 (GRCm38)	missense	probably benign	0.00
R8550:Spta1	UTSW	1	174,187,208 (GRCm38)	missense	probably damaging	1.00
R8675:Spta1	UTSW	1	174,230,683 (GRCm38)	missense	probably benign	0.01
R8757:Spta1	UTSW	1	174,213,374 (GRCm38)	missense	probably damaging	1.00
R8759:Spta1	UTSW	1	174,213,374 (GRCm38)	missense	probably damaging	1.00
R8848:Spta1	UTSW	1	174,197,744 (GRCm38)	missense	probably benign	0.05
R8883:Spta1	UTSW	1	174,193,579 (GRCm38)	missense	possibly damaging	0.82
R8884:Spta1	UTSW	1	174,217,688 (GRCm38)	critical splice donor site	probably null
R8896:Spta1	UTSW	1	174,217,982 (GRCm38)	missense	probably damaging	1.00
R8953:Spta1	UTSW	1	174,230,675 (GRCm38)	missense	probably benign	0.10
R9006:Spta1	UTSW	1	174,219,971 (GRCm38)	missense	probably damaging	1.00
R9013:Spta1	UTSW	1	174,222,608 (GRCm38)	missense	probably damaging	1.00
R9077:Spta1	UTSW	1	174,217,604 (GRCm38)	missense	probably damaging	1.00
R9129:Spta1	UTSW	1	174,231,345 (GRCm38)	missense	possibly damaging	0.77
R9207:Spta1	UTSW	1	174,211,573 (GRCm38)	missense	probably benign	0.01
R9229:Spta1	UTSW	1	174,240,184 (GRCm38)	missense	probably damaging	1.00
R9281:Spta1	UTSW	1	174,219,878 (GRCm38)	missense	probably damaging	1.00
R9290:Spta1	UTSW	1	174,217,638 (GRCm38)	missense	possibly damaging	0.94
R9307:Spta1	UTSW	1	174,208,412 (GRCm38)	missense	probably damaging	1.00
R9489:Spta1	UTSW	1	174,208,314 (GRCm38)	missense	probably damaging	1.00
R9605:Spta1	UTSW	1	174,208,314 (GRCm38)	missense	probably damaging	1.00
R9685:Spta1	UTSW	1	174,205,359 (GRCm38)	missense	probably damaging	1.00
RF002:Spta1	UTSW	1	174,231,360 (GRCm38)	missense	possibly damaging	0.62
RF018:Spta1	UTSW	1	174,209,319 (GRCm38)	missense	probably damaging	1.00
RF020:Spta1	UTSW	1	174,217,903 (GRCm38)	missense	probably damaging	1.00
RF020:Spta1	UTSW	1	174,213,444 (GRCm38)	missense	probably benign	0.42
T0722:Spta1	UTSW	1	174,191,066 (GRCm38)	splice site	probably benign
X0028:Spta1	UTSW	1	174,224,450 (GRCm38)	missense	probably damaging	1.00
Z1176:Spta1	UTSW	1	174,240,367 (GRCm38)	missense	probably damaging	0.99
Z1176:Spta1	UTSW	1	174,191,051 (GRCm38)	missense	probably damaging	1.00
Z1177:Spta1	UTSW	1	174,245,689 (GRCm38)	missense	probably benign	0.02
Z1177:Spta1	UTSW	1	174,190,162 (GRCm38)	missense	probably benign	0.09

Posted On

2015-04-16