Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Sptb'

1072

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sptb

Ensembl Gene

ENSMUSG00000021061

Gene Name

spectrin beta, erythrocytic

Synonyms

LOC383567, spectrin R, D330027P03Rik, brain erythroid spectrin (235E), Spnb-1, Spnb1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

76580488-76710547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76621331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 664 (D664G)

Ref Sequence

ENSEMBL: ENSMUSP00000129782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021458] [ENSMUST00000166101]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021458
AA Change: D664G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: D664G

Domain	Start	End	E-Value	Type
CH	56	156	2.73e-26	SMART
CH	175	273	4.57e-28	SMART
SPEC	305	411	2.71e0	SMART
SPEC	425	525	4.65e-23	SMART
SPEC	531	634	4.51e-21	SMART
SPEC	640	740	3.02e-31	SMART
SPEC	746	845	1.47e-20	SMART
SPEC	851	951	1.04e-20	SMART
SPEC	957	1058	7.22e-20	SMART
SPEC	1064	1165	2.06e-24	SMART
SPEC	1171	1271	3.84e-15	SMART
SPEC	1277	1376	2.22e-20	SMART
SPEC	1382	1475	5.04e-10	SMART
SPEC	1481	1581	3.58e-24	SMART
SPEC	1587	1687	4.11e-24	SMART
SPEC	1693	1794	2.91e-24	SMART
SPEC	1800	1900	7.8e-16	SMART
SPEC	1906	2006	3.16e-25	SMART
SPEC	2012	2193	4.32e-9	SMART
PH	2180	2291	8.98e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166101
AA Change: D664G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: D664G

Domain	Start	End	E-Value	Type
CH	56	156	2.73e-26	SMART
CH	175	273	4.57e-28	SMART
SPEC	305	411	2.71e0	SMART
SPEC	425	525	4.65e-23	SMART
SPEC	531	634	4.51e-21	SMART
SPEC	640	740	3.02e-31	SMART
SPEC	746	845	1.47e-20	SMART
SPEC	851	951	1.04e-20	SMART
SPEC	957	1058	7.22e-20	SMART
SPEC	1064	1165	2.06e-24	SMART
SPEC	1171	1271	3.84e-15	SMART
SPEC	1277	1376	2.22e-20	SMART
SPEC	1382	1475	5.87e-11	SMART
SPEC	1481	1581	3.58e-24	SMART
SPEC	1587	1687	4.11e-24	SMART
SPEC	1693	1794	2.91e-24	SMART
SPEC	1800	1900	7.8e-16	SMART
SPEC	1906	2006	3.16e-25	SMART
SPEC	2012	2117	1.16e-9	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	G	A	7: 118,797,047 (GRCm38)		probably null	Het
Axin1	A	T	17: 26,142,805 (GRCm38)	D41V	possibly damaging	Het
BC034090	C	A	1: 155,225,451 (GRCm38)	E718*	probably null	Het
Cdc123	G	T	2: 5,804,935 (GRCm38)	Q222K	probably benign	Het
Clip1	A	C	5: 123,603,654 (GRCm38)	V1053G	possibly damaging	Het
Dock7	T	A	4: 99,063,985 (GRCm38)	E416V	probably damaging	Het
Dydc1	T	C	14: 41,087,413 (GRCm38)	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839 (GRCm38)	V732A	probably benign	Het
Dzip1l	T	A	9: 99,637,777 (GRCm38)	L119Q	probably damaging	Het
Erp27	T	A	6: 136,909,502 (GRCm38)	S178C	probably damaging	Het
Fbn1	A	G	2: 125,397,873 (GRCm38)	V298A	probably benign	Het
Fbxo34	A	G	14: 47,529,474 (GRCm38)	H97R	probably damaging	Het
Gm20521	C	T	14: 54,884,622 (GRCm38)	Q81*	probably null	Het
Gspt1	T	C	16: 11,222,612 (GRCm38)	M610V	probably damaging	Het
Herc1	A	G	9: 66,437,682 (GRCm38)	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,935,055 (GRCm38)		probably benign	Het
Kif14	G	A	1: 136,469,018 (GRCm38)	S354N	probably benign	Het
Lrrk2	A	G	15: 91,747,799 (GRCm38)	K1309E	possibly damaging	Het
Lurap1	T	C	4: 116,137,690 (GRCm38)	T115A	probably damaging	Het
Myo18b	G	T	5: 112,874,131 (GRCm38)	T465K	probably benign	Het
Nwd1	A	T	8: 72,671,077 (GRCm38)	D648V	probably damaging	Het
Olfr272	T	G	4: 52,911,618 (GRCm38)	M59L	possibly damaging	Het
Olfr520	G	A	7: 99,735,317 (GRCm38)	R58H	probably benign	Het
Otof	T	C	5: 30,375,904 (GRCm38)	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,344,397 (GRCm38)	C285Y	probably damaging	Het
Parp3	A	G	9: 106,471,387 (GRCm38)	I478T	probably benign	Het
Pdzd2	C	T	15: 12,457,983 (GRCm38)	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,896,125 (GRCm38)	L634P	probably damaging	Het
Prkg1	C	A	19: 31,302,340 (GRCm38)	V165L	probably benign	Het
Riok3	A	G	18: 12,148,891 (GRCm38)	I306V	possibly damaging	Het
Ror2	T	C	13: 53,113,082 (GRCm38)	D439G	probably benign	Het
Scn2a	T	A	2: 65,743,090 (GRCm38)	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,232,475 (GRCm38)	D146N	probably benign	Het
Slc16a9	A	G	10: 70,282,699 (GRCm38)	R283G	probably benign	Het
Tmprss3	T	A	17: 31,195,008 (GRCm38)	D54V	probably damaging	Het
Ttc37	T	C	13: 76,143,278 (GRCm38)		probably null	Het
Tubd1	G	T	11: 86,565,729 (GRCm38)	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,428,785 (GRCm38)	M83K	probably benign	Het
Vps13c	A	G	9: 67,945,999 (GRCm38)	E2458G	probably benign	Het
Zhx2	A	T	15: 57,822,870 (GRCm38)	E545V	probably damaging	Het

Other mutations in Sptb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Sptb	APN	12	76,623,169 (GRCm38)	missense	probably damaging	1.00
IGL00229:Sptb	APN	12	76,620,753 (GRCm38)	missense	probably benign	0.20
IGL00820:Sptb	APN	12	76,632,477 (GRCm38)	missense	probably damaging	1.00
IGL01309:Sptb	APN	12	76,587,463 (GRCm38)	missense	probably benign	0.16
IGL01408:Sptb	APN	12	76,613,147 (GRCm38)	missense	possibly damaging	0.93
IGL01450:Sptb	APN	12	76,624,240 (GRCm38)	missense	possibly damaging	0.89
IGL01455:Sptb	APN	12	76,612,912 (GRCm38)	missense	probably damaging	1.00
IGL01457:Sptb	APN	12	76,612,555 (GRCm38)	splice site	probably benign
IGL01680:Sptb	APN	12	76,630,682 (GRCm38)	missense	probably damaging	1.00
IGL02070:Sptb	APN	12	76,605,539 (GRCm38)	missense	possibly damaging	0.82
IGL02346:Sptb	APN	12	76,621,014 (GRCm38)	missense	probably damaging	1.00
IGL02452:Sptb	APN	12	76,609,036 (GRCm38)	critical splice donor site	probably null
IGL02515:Sptb	APN	12	76,606,487 (GRCm38)	missense	possibly damaging	0.51
IGL02545:Sptb	APN	12	76,607,980 (GRCm38)	critical splice donor site	probably null
IGL02644:Sptb	APN	12	76,605,617 (GRCm38)	missense	probably damaging	1.00
IGL02878:Sptb	APN	12	76,620,753 (GRCm38)	missense	probably benign	0.20
IGL03007:Sptb	APN	12	76,621,341 (GRCm38)	missense	probably damaging	1.00
IGL03220:Sptb	APN	12	76,612,910 (GRCm38)	missense	probably benign	0.06
IGL03343:Sptb	APN	12	76,583,556 (GRCm38)	unclassified	probably benign
IGL03098:Sptb	UTSW	12	76,621,499 (GRCm38)	missense	probably damaging	1.00
PIT4472001:Sptb	UTSW	12	76,620,686 (GRCm38)	missense	probably damaging	1.00
R0047:Sptb	UTSW	12	76,622,950 (GRCm38)	missense	probably damaging	0.99
R0365:Sptb	UTSW	12	76,600,383 (GRCm38)	missense	probably benign	0.12
R0373:Sptb	UTSW	12	76,621,371 (GRCm38)	missense	probably benign	0.03
R0704:Sptb	UTSW	12	76,583,594 (GRCm38)	missense	probably damaging	0.99
R1005:Sptb	UTSW	12	76,601,859 (GRCm38)	critical splice donor site	probably null
R1109:Sptb	UTSW	12	76,603,603 (GRCm38)	missense	probably damaging	1.00
R1264:Sptb	UTSW	12	76,612,607 (GRCm38)	missense	probably damaging	1.00
R1358:Sptb	UTSW	12	76,621,326 (GRCm38)	missense	probably damaging	1.00
R1358:Sptb	UTSW	12	76,621,321 (GRCm38)	frame shift	probably null
R1459:Sptb	UTSW	12	76,611,883 (GRCm38)	missense	probably benign	0.01
R1518:Sptb	UTSW	12	76,604,024 (GRCm38)	missense	possibly damaging	0.95
R1628:Sptb	UTSW	12	76,583,848 (GRCm38)	missense	probably damaging	1.00
R1668:Sptb	UTSW	12	76,621,169 (GRCm38)	missense	probably benign
R1677:Sptb	UTSW	12	76,629,649 (GRCm38)	missense	probably damaging	1.00
R1687:Sptb	UTSW	12	76,603,699 (GRCm38)	missense	possibly damaging	0.95
R1695:Sptb	UTSW	12	76,620,867 (GRCm38)	missense	probably benign	0.10
R1708:Sptb	UTSW	12	76,612,574 (GRCm38)	missense	probably damaging	1.00
R1761:Sptb	UTSW	12	76,612,608 (GRCm38)	missense	probably damaging	0.96
R1925:Sptb	UTSW	12	76,622,253 (GRCm38)	missense	probably damaging	1.00
R2011:Sptb	UTSW	12	76,632,472 (GRCm38)	missense	possibly damaging	0.95
R2373:Sptb	UTSW	12	76,621,161 (GRCm38)	missense	probably damaging	1.00
R2517:Sptb	UTSW	12	76,649,869 (GRCm38)	missense	possibly damaging	0.55
R2918:Sptb	UTSW	12	76,598,758 (GRCm38)	missense	probably damaging	0.97
R2961:Sptb	UTSW	12	76,603,582 (GRCm38)	missense	probably benign	0.19
R3409:Sptb	UTSW	12	76,610,815 (GRCm38)	missense	possibly damaging	0.78
R3410:Sptb	UTSW	12	76,610,815 (GRCm38)	missense	possibly damaging	0.78
R3411:Sptb	UTSW	12	76,610,815 (GRCm38)	missense	possibly damaging	0.78
R3744:Sptb	UTSW	12	76,600,400 (GRCm38)	missense	probably benign
R4112:Sptb	UTSW	12	76,597,779 (GRCm38)	missense	probably damaging	0.99
R4177:Sptb	UTSW	12	76,613,179 (GRCm38)	missense	probably benign	0.25
R4194:Sptb	UTSW	12	76,613,010 (GRCm38)	missense	probably benign	0.44
R4301:Sptb	UTSW	12	76,612,697 (GRCm38)	missense	probably damaging	1.00
R4555:Sptb	UTSW	12	76,612,851 (GRCm38)	missense	probably benign	0.03
R4619:Sptb	UTSW	12	76,583,807 (GRCm38)	nonsense	probably null
R4620:Sptb	UTSW	12	76,583,807 (GRCm38)	nonsense	probably null
R4625:Sptb	UTSW	12	76,587,326 (GRCm38)	splice site	probably null
R4728:Sptb	UTSW	12	76,583,379 (GRCm38)	missense	probably benign	0.00
R4751:Sptb	UTSW	12	76,627,110 (GRCm38)	missense	probably benign	0.07
R4810:Sptb	UTSW	12	76,623,197 (GRCm38)	nonsense	probably null
R4888:Sptb	UTSW	12	76,609,037 (GRCm38)	missense	probably benign	0.00
R4894:Sptb	UTSW	12	76,624,994 (GRCm38)	critical splice donor site	probably null
R5114:Sptb	UTSW	12	76,609,278 (GRCm38)	missense	probably damaging	1.00
R5191:Sptb	UTSW	12	76,612,834 (GRCm38)	missense	probably benign	0.12
R5479:Sptb	UTSW	12	76,599,851 (GRCm38)	missense	probably benign	0.04
R5646:Sptb	UTSW	12	76,587,441 (GRCm38)	missense	probably benign
R5725:Sptb	UTSW	12	76,623,114 (GRCm38)	missense	probably benign	0.25
R5727:Sptb	UTSW	12	76,623,114 (GRCm38)	missense	probably benign	0.25
R5797:Sptb	UTSW	12	76,603,699 (GRCm38)	missense	possibly damaging	0.95
R5874:Sptb	UTSW	12	76,598,727 (GRCm38)	missense	possibly damaging	0.91
R5952:Sptb	UTSW	12	76,632,384 (GRCm38)	missense	probably benign	0.02
R5956:Sptb	UTSW	12	76,604,168 (GRCm38)	missense	probably benign
R6298:Sptb	UTSW	12	76,620,654 (GRCm38)	critical splice donor site	probably null
R6470:Sptb	UTSW	12	76,612,829 (GRCm38)	missense	probably damaging	1.00
R6477:Sptb	UTSW	12	76,606,392 (GRCm38)	missense	probably damaging	1.00
R6736:Sptb	UTSW	12	76,613,180 (GRCm38)	missense	possibly damaging	0.49
R6854:Sptb	UTSW	12	76,603,480 (GRCm38)	missense	probably damaging	1.00
R6969:Sptb	UTSW	12	76,608,007 (GRCm38)	missense	probably damaging	1.00
R6987:Sptb	UTSW	12	76,613,247 (GRCm38)	missense	probably benign	0.00
R7023:Sptb	UTSW	12	76,625,088 (GRCm38)	missense	probably damaging	1.00
R7366:Sptb	UTSW	12	76,604,194 (GRCm38)	missense	probably damaging	1.00
R7379:Sptb	UTSW	12	76,610,877 (GRCm38)	missense	probably damaging	1.00
R7389:Sptb	UTSW	12	76,624,229 (GRCm38)	missense	probably damaging	0.98
R7392:Sptb	UTSW	12	76,624,229 (GRCm38)	missense	probably damaging	0.98
R7477:Sptb	UTSW	12	76,628,565 (GRCm38)	missense	probably damaging	1.00
R7653:Sptb	UTSW	12	76,628,497 (GRCm38)	missense	probably benign	0.06
R7684:Sptb	UTSW	12	76,612,195 (GRCm38)	missense	probably benign	0.06
R7733:Sptb	UTSW	12	76,597,921 (GRCm38)	splice site	probably null
R7846:Sptb	UTSW	12	76,608,526 (GRCm38)	nonsense	probably null
R8048:Sptb	UTSW	12	76,628,559 (GRCm38)	missense	probably benign	0.02
R8261:Sptb	UTSW	12	76,621,262 (GRCm38)	missense	probably benign	0.06
R8324:Sptb	UTSW	12	76,619,162 (GRCm38)	missense	possibly damaging	0.73
R8512:Sptb	UTSW	12	76,602,052 (GRCm38)	missense	possibly damaging	0.51
R8515:Sptb	UTSW	12	76,612,041 (GRCm38)	missense	probably benign	0.10
R8558:Sptb	UTSW	12	76,612,787 (GRCm38)	missense	probably benign	0.09
R8872:Sptb	UTSW	12	76,612,039 (GRCm38)	missense	probably benign	0.37
R8907:Sptb	UTSW	12	76,587,412 (GRCm38)	missense	probably benign	0.16
R9047:Sptb	UTSW	12	76,632,534 (GRCm38)	splice site	probably benign
R9079:Sptb	UTSW	12	76,630,680 (GRCm38)	missense	probably damaging	1.00
R9166:Sptb	UTSW	12	76,627,002 (GRCm38)	missense	probably damaging	0.96
R9381:Sptb	UTSW	12	76,587,518 (GRCm38)	missense	probably benign
R9601:Sptb	UTSW	12	76,620,989 (GRCm38)	missense	probably damaging	1.00
R9680:Sptb	UTSW	12	76,630,715 (GRCm38)	missense	probably damaging	1.00
R9771:Sptb	UTSW	12	76,603,579 (GRCm38)	missense	probably damaging	1.00
X0057:Sptb	UTSW	12	76,630,739 (GRCm38)	missense	probably benign
Z1176:Sptb	UTSW	12	76,620,733 (GRCm38)	nonsense	probably null
Z1177:Sptb	UTSW	12	76,606,445 (GRCm38)	missense	probably benign	0.22
Z1177:Sptb	UTSW	12	76,583,584 (GRCm38)	missense	probably damaging	1.00

Posted On

2011-07-12