Mutagenetix > Incidental Mutation

Incidental Mutation 'R3744:Sptb'

271133

Institutional Source

Beutler Lab

Gene Symbol

Sptb

Ensembl Gene

ENSMUSG00000021061

Gene Name

spectrin beta, erythrocytic

Synonyms

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

MMRRC Submission

040730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R3744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76627262-76757321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76647174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1954 (T1954A)

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: T1954A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: T1954A

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: T1954A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: T1954A

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

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (33/33)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,330,190 (GRCm39)		probably benign	Het
Aox4	C	T	1: 58,285,029 (GRCm39)	H594Y	probably damaging	Het
Aspn	G	A	13: 49,720,036 (GRCm39)	E351K	probably damaging	Het
BC004004	A	G	17: 29,520,423 (GRCm39)	*349W	probably null	Het
Elmo2	C	T	2: 165,157,922 (GRCm39)	D39N	probably damaging	Het
Fam161a	T	C	11: 22,970,410 (GRCm39)	F196S	probably damaging	Het
Fam186a	A	G	15: 99,845,416 (GRCm39)	V276A	unknown	Het
Fn3krp	T	C	11: 121,317,531 (GRCm39)		probably null	Het
Gnai3	T	C	3: 108,016,714 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,292,815 (GRCm39)		probably benign	Het
Igkv5-43	G	A	6: 69,752,921 (GRCm39)	H54Y	probably benign	Het
Kif26b	A	G	1: 178,506,595 (GRCm39)	I224V	probably benign	Het
Lyg1	T	C	1: 37,988,923 (GRCm39)	Y99C	probably benign	Het
Myh4	C	T	11: 67,146,141 (GRCm39)	R1400C	probably damaging	Het
Nf1	T	C	11: 79,439,573 (GRCm39)	S2262P	probably benign	Het
Pop5	T	C	5: 115,378,567 (GRCm39)	Y117H	possibly damaging	Het
Prpf8	T	A	11: 75,397,547 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rapgef6	T	C	11: 54,516,760 (GRCm39)	F54S	probably benign	Het
Ssbp2	T	C	13: 91,828,765 (GRCm39)		probably benign	Het
Tap1	A	T	17: 34,412,586 (GRCm39)	D541V	probably damaging	Het
Tcte1	A	G	17: 45,850,597 (GRCm39)	D291G	probably damaging	Het
Tpbg	A	G	9: 85,727,215 (GRCm39)	R395G	probably damaging	Het
Trappc10	T	A	10: 78,034,924 (GRCm39)	S941C	probably benign	Het
Usp19	G	A	9: 108,377,380 (GRCm39)	R886Q	probably damaging	Het
Utp14b	G	T	1: 78,642,973 (GRCm39)	E290D	probably benign	Het
Vmn1r30	A	T	6: 58,412,804 (GRCm39)	Y9*	probably null	Het
Vmn2r97	A	G	17: 19,149,890 (GRCm39)	H426R	probably benign	Het
Vwa3a	A	G	7: 120,351,817 (GRCm39)	D27G	probably benign	Het
Zfp36	A	G	7: 28,077,201 (GRCm39)	S236P	probably benign	Het
Zfp616	C	A	11: 73,974,813 (GRCm39)	H452N	probably benign	Het

Other mutations in Sptb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Sptb	APN	12	76,668,105 (GRCm39)	missense	probably benign	0.00
IGL00160:Sptb	APN	12	76,669,943 (GRCm39)	missense	probably damaging	1.00
IGL00229:Sptb	APN	12	76,667,527 (GRCm39)	missense	probably benign	0.20
IGL00820:Sptb	APN	12	76,679,251 (GRCm39)	missense	probably damaging	1.00
IGL01309:Sptb	APN	12	76,634,237 (GRCm39)	missense	probably benign	0.16
IGL01408:Sptb	APN	12	76,659,921 (GRCm39)	missense	possibly damaging	0.93
IGL01450:Sptb	APN	12	76,671,014 (GRCm39)	missense	possibly damaging	0.89
IGL01455:Sptb	APN	12	76,659,686 (GRCm39)	missense	probably damaging	1.00
IGL01457:Sptb	APN	12	76,659,329 (GRCm39)	splice site	probably benign
IGL01680:Sptb	APN	12	76,677,456 (GRCm39)	missense	probably damaging	1.00
IGL02070:Sptb	APN	12	76,652,313 (GRCm39)	missense	possibly damaging	0.82
IGL02346:Sptb	APN	12	76,667,788 (GRCm39)	missense	probably damaging	1.00
IGL02452:Sptb	APN	12	76,655,810 (GRCm39)	critical splice donor site	probably null
IGL02515:Sptb	APN	12	76,653,261 (GRCm39)	missense	possibly damaging	0.51
IGL02545:Sptb	APN	12	76,654,754 (GRCm39)	critical splice donor site	probably null
IGL02644:Sptb	APN	12	76,652,391 (GRCm39)	missense	probably damaging	1.00
IGL02878:Sptb	APN	12	76,667,527 (GRCm39)	missense	probably benign	0.20
IGL03007:Sptb	APN	12	76,668,115 (GRCm39)	missense	probably damaging	1.00
IGL03220:Sptb	APN	12	76,659,684 (GRCm39)	missense	probably benign	0.06
IGL03343:Sptb	APN	12	76,630,330 (GRCm39)	unclassified	probably benign
IGL03098:Sptb	UTSW	12	76,668,273 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Sptb	UTSW	12	76,667,460 (GRCm39)	missense	probably damaging	1.00
R0047:Sptb	UTSW	12	76,669,724 (GRCm39)	missense	probably damaging	0.99
R0365:Sptb	UTSW	12	76,647,157 (GRCm39)	missense	probably benign	0.12
R0373:Sptb	UTSW	12	76,668,145 (GRCm39)	missense	probably benign	0.03
R0704:Sptb	UTSW	12	76,630,368 (GRCm39)	missense	probably damaging	0.99
R1005:Sptb	UTSW	12	76,648,633 (GRCm39)	critical splice donor site	probably null
R1109:Sptb	UTSW	12	76,650,377 (GRCm39)	missense	probably damaging	1.00
R1264:Sptb	UTSW	12	76,659,381 (GRCm39)	missense	probably damaging	1.00
R1358:Sptb	UTSW	12	76,668,100 (GRCm39)	missense	probably damaging	1.00
R1358:Sptb	UTSW	12	76,668,095 (GRCm39)	frame shift	probably null
R1459:Sptb	UTSW	12	76,658,657 (GRCm39)	missense	probably benign	0.01
R1518:Sptb	UTSW	12	76,650,798 (GRCm39)	missense	possibly damaging	0.95
R1628:Sptb	UTSW	12	76,630,622 (GRCm39)	missense	probably damaging	1.00
R1668:Sptb	UTSW	12	76,667,943 (GRCm39)	missense	probably benign
R1677:Sptb	UTSW	12	76,676,423 (GRCm39)	missense	probably damaging	1.00
R1687:Sptb	UTSW	12	76,650,473 (GRCm39)	missense	possibly damaging	0.95
R1695:Sptb	UTSW	12	76,667,641 (GRCm39)	missense	probably benign	0.10
R1708:Sptb	UTSW	12	76,659,348 (GRCm39)	missense	probably damaging	1.00
R1761:Sptb	UTSW	12	76,659,382 (GRCm39)	missense	probably damaging	0.96
R1925:Sptb	UTSW	12	76,669,027 (GRCm39)	missense	probably damaging	1.00
R2011:Sptb	UTSW	12	76,679,246 (GRCm39)	missense	possibly damaging	0.95
R2373:Sptb	UTSW	12	76,667,935 (GRCm39)	missense	probably damaging	1.00
R2517:Sptb	UTSW	12	76,696,643 (GRCm39)	missense	possibly damaging	0.55
R2918:Sptb	UTSW	12	76,645,532 (GRCm39)	missense	probably damaging	0.97
R2961:Sptb	UTSW	12	76,650,356 (GRCm39)	missense	probably benign	0.19
R3409:Sptb	UTSW	12	76,657,589 (GRCm39)	missense	possibly damaging	0.78
R3410:Sptb	UTSW	12	76,657,589 (GRCm39)	missense	possibly damaging	0.78
R3411:Sptb	UTSW	12	76,657,589 (GRCm39)	missense	possibly damaging	0.78
R4112:Sptb	UTSW	12	76,644,553 (GRCm39)	missense	probably damaging	0.99
R4177:Sptb	UTSW	12	76,659,953 (GRCm39)	missense	probably benign	0.25
R4194:Sptb	UTSW	12	76,659,784 (GRCm39)	missense	probably benign	0.44
R4301:Sptb	UTSW	12	76,659,471 (GRCm39)	missense	probably damaging	1.00
R4555:Sptb	UTSW	12	76,659,625 (GRCm39)	missense	probably benign	0.03
R4619:Sptb	UTSW	12	76,630,581 (GRCm39)	nonsense	probably null
R4620:Sptb	UTSW	12	76,630,581 (GRCm39)	nonsense	probably null
R4625:Sptb	UTSW	12	76,634,100 (GRCm39)	splice site	probably null
R4728:Sptb	UTSW	12	76,630,153 (GRCm39)	missense	probably benign	0.00
R4751:Sptb	UTSW	12	76,673,884 (GRCm39)	missense	probably benign	0.07
R4810:Sptb	UTSW	12	76,669,971 (GRCm39)	nonsense	probably null
R4888:Sptb	UTSW	12	76,655,811 (GRCm39)	missense	probably benign	0.00
R4894:Sptb	UTSW	12	76,671,768 (GRCm39)	critical splice donor site	probably null
R5114:Sptb	UTSW	12	76,656,052 (GRCm39)	missense	probably damaging	1.00
R5191:Sptb	UTSW	12	76,659,608 (GRCm39)	missense	probably benign	0.12
R5479:Sptb	UTSW	12	76,646,625 (GRCm39)	missense	probably benign	0.04
R5646:Sptb	UTSW	12	76,634,215 (GRCm39)	missense	probably benign
R5725:Sptb	UTSW	12	76,669,888 (GRCm39)	missense	probably benign	0.25
R5727:Sptb	UTSW	12	76,669,888 (GRCm39)	missense	probably benign	0.25
R5797:Sptb	UTSW	12	76,650,473 (GRCm39)	missense	possibly damaging	0.95
R5874:Sptb	UTSW	12	76,645,501 (GRCm39)	missense	possibly damaging	0.91
R5952:Sptb	UTSW	12	76,679,158 (GRCm39)	missense	probably benign	0.02
R5956:Sptb	UTSW	12	76,650,942 (GRCm39)	missense	probably benign
R6298:Sptb	UTSW	12	76,667,428 (GRCm39)	critical splice donor site	probably null
R6470:Sptb	UTSW	12	76,659,603 (GRCm39)	missense	probably damaging	1.00
R6477:Sptb	UTSW	12	76,653,166 (GRCm39)	missense	probably damaging	1.00
R6736:Sptb	UTSW	12	76,659,954 (GRCm39)	missense	possibly damaging	0.49
R6854:Sptb	UTSW	12	76,650,254 (GRCm39)	missense	probably damaging	1.00
R6969:Sptb	UTSW	12	76,654,781 (GRCm39)	missense	probably damaging	1.00
R6987:Sptb	UTSW	12	76,660,021 (GRCm39)	missense	probably benign	0.00
R7023:Sptb	UTSW	12	76,671,862 (GRCm39)	missense	probably damaging	1.00
R7366:Sptb	UTSW	12	76,650,968 (GRCm39)	missense	probably damaging	1.00
R7379:Sptb	UTSW	12	76,657,651 (GRCm39)	missense	probably damaging	1.00
R7389:Sptb	UTSW	12	76,671,003 (GRCm39)	missense	probably damaging	0.98
R7392:Sptb	UTSW	12	76,671,003 (GRCm39)	missense	probably damaging	0.98
R7477:Sptb	UTSW	12	76,675,339 (GRCm39)	missense	probably damaging	1.00
R7653:Sptb	UTSW	12	76,675,271 (GRCm39)	missense	probably benign	0.06
R7684:Sptb	UTSW	12	76,658,969 (GRCm39)	missense	probably benign	0.06
R7733:Sptb	UTSW	12	76,644,695 (GRCm39)	splice site	probably null
R7846:Sptb	UTSW	12	76,655,300 (GRCm39)	nonsense	probably null
R8048:Sptb	UTSW	12	76,675,333 (GRCm39)	missense	probably benign	0.02
R8261:Sptb	UTSW	12	76,668,036 (GRCm39)	missense	probably benign	0.06
R8324:Sptb	UTSW	12	76,665,936 (GRCm39)	missense	possibly damaging	0.73
R8512:Sptb	UTSW	12	76,648,826 (GRCm39)	missense	possibly damaging	0.51
R8515:Sptb	UTSW	12	76,658,815 (GRCm39)	missense	probably benign	0.10
R8558:Sptb	UTSW	12	76,659,561 (GRCm39)	missense	probably benign	0.09
R8872:Sptb	UTSW	12	76,658,813 (GRCm39)	missense	probably benign	0.37
R8907:Sptb	UTSW	12	76,634,186 (GRCm39)	missense	probably benign	0.16
R9047:Sptb	UTSW	12	76,679,308 (GRCm39)	splice site	probably benign
R9079:Sptb	UTSW	12	76,677,454 (GRCm39)	missense	probably damaging	1.00
R9166:Sptb	UTSW	12	76,673,776 (GRCm39)	missense	probably damaging	0.96
R9381:Sptb	UTSW	12	76,634,292 (GRCm39)	missense	probably benign
R9601:Sptb	UTSW	12	76,667,763 (GRCm39)	missense	probably damaging	1.00
R9680:Sptb	UTSW	12	76,677,489 (GRCm39)	missense	probably damaging	1.00
R9771:Sptb	UTSW	12	76,650,353 (GRCm39)	missense	probably damaging	1.00
X0057:Sptb	UTSW	12	76,677,513 (GRCm39)	missense	probably benign
Z1176:Sptb	UTSW	12	76,667,507 (GRCm39)	nonsense	probably null
Z1177:Sptb	UTSW	12	76,653,219 (GRCm39)	missense	probably benign	0.22
Z1177:Sptb	UTSW	12	76,630,358 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATGGGCTTAAGATGGCTC -3'
(R):5'- AGTGACTCGTTAGTGTGACAGC -3'

Sequencing Primer
(F):5'- AAGATGGCTCTGATCTCTGGC -3'
(R):5'- CTGGGGCTGCAACAGAG -3'

Posted On

2015-03-18