Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Sptb'

618890

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

067485-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76627262-76757321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76675333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000021458 (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: D227G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: D227G

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: D227G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: D227G

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

0.1038

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,228,708 (GRCm39)	L318F	probably damaging	Het
Alms1	T	A	6: 85,618,316 (GRCm39)	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883 (GRCm39)	T443I	probably benign	Het
Arhgap29	C	T	3: 121,786,550 (GRCm39)	R372W	probably damaging	Het
Astn1	T	C	1: 158,516,208 (GRCm39)	I1266T	probably benign	Het
Bsg	T	C	10: 79,545,580 (GRCm39)	V164A	probably benign	Het
C1qa	G	T	4: 136,623,921 (GRCm39)	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,862 (GRCm39)	V92A	probably benign	Het
Ccdc187	T	A	2: 26,183,526 (GRCm39)	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,989,838 (GRCm39)	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,758,706 (GRCm39)	A285V	probably null	Het
Dsg1c	A	T	18: 20,407,824 (GRCm39)	K390M	probably damaging	Het
Dst	T	C	1: 34,229,717 (GRCm39)	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,533,959 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,694,482 (GRCm39)	I303V	probably benign	Het
Ffar1	A	T	7: 30,560,003 (GRCm39)	I298N	probably benign	Het
Hpx	C	T	7: 105,244,685 (GRCm39)	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,098,786 (GRCm39)	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Ivl	T	A	3: 92,479,231 (GRCm39)	K278M	probably damaging	Het
Lyst	A	G	13: 13,862,230 (GRCm39)	T2589A	probably benign	Het
Madd	A	T	2: 90,984,793 (GRCm39)	M1359K	probably damaging	Het
Nav3	T	C	10: 109,600,779 (GRCm39)	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,156,661 (GRCm39)	C439*	probably null	Het
Nebl	T	C	2: 17,429,333 (GRCm39)	D266G	probably benign	Het
Oas1f	G	T	5: 120,985,602 (GRCm39)	G49V	probably damaging	Het
Oas1f	A	T	5: 120,986,479 (GRCm39)	Q144L	possibly damaging	Het
Or11g7	T	C	14: 50,691,373 (GRCm39)	L288P	possibly damaging	Het
Or2ab1	A	G	11: 58,488,233 (GRCm39)	I6V	unknown	Het
Or2n1	T	C	17: 38,486,419 (GRCm39)	V148A	probably benign	Het
Or5an6	A	G	19: 12,371,719 (GRCm39)	I31V	not run	Het
Or5j3	C	T	2: 86,128,672 (GRCm39)	P171S	probably benign	Het
Or5m3	T	G	2: 85,838,524 (GRCm39)	S135A	probably damaging	Het
Or5t18	T	A	2: 86,636,515 (GRCm39)	Y276F	probably damaging	Het
Or6b6	C	T	7: 106,571,671 (GRCm39)		probably benign	Het
Or8b52	C	T	9: 38,577,108 (GRCm39)	E11K	probably benign	Het
Or8j3c	T	A	2: 86,253,651 (GRCm39)	Y123F	probably damaging	Het
Pard3b	T	A	1: 62,193,148 (GRCm39)	V217E	probably damaging	Het
Pcdha2	T	A	18: 37,072,513 (GRCm39)	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,120,991 (GRCm39)	F1248L		Het
Plekha2	A	T	8: 25,554,005 (GRCm39)		probably benign	Het
Plpp4	C	T	7: 128,981,201 (GRCm39)	R151C	unknown	Het
Pramel14	T	A	4: 143,718,177 (GRCm39)	Y422F	probably benign	Het
Prdm16	A	G	4: 154,405,339 (GRCm39)	L1245P	probably damaging	Het
Prob1	G	A	18: 35,786,604 (GRCm39)	A550V	probably benign	Het
Prok1	T	C	3: 107,144,408 (GRCm39)	H65R	probably benign	Het
Ptcd1	A	G	5: 145,091,887 (GRCm39)	V404A	probably benign	Het
Sbf2	T	C	7: 109,914,289 (GRCm39)	E1631G	probably benign	Het
Sdad1	C	A	5: 92,447,948 (GRCm39)	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,794,272 (GRCm39)	A547S	probably benign	Het
Tbx1	A	G	16: 18,406,769 (GRCm39)	M1T	probably null	Het
Tespa1	T	A	10: 130,183,208 (GRCm39)	V51D	probably damaging	Het
Tmc7	T	C	7: 118,165,468 (GRCm39)	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476 (GRCm39)	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,493 (GRCm39)	T23S	probably damaging	Het
Trib3	A	T	2: 152,180,553 (GRCm39)	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,013,981 (GRCm39)	V178A	probably benign	Het
Virma	T	A	4: 11,539,918 (GRCm39)	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,691,762 (GRCm39)	T254A	probably benign	Het
Vps13d	A	G	4: 144,882,137 (GRCm39)	V1152A		Het
Wdr47	T	C	3: 108,526,284 (GRCm39)	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,561,977 (GRCm39)	D676E	unknown	Het
Zc3h6	T	A	2: 128,858,934 (GRCm39)	S988R	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
R3744:Sptb	UTSW	12	76,647,174 (GRCm39)	missense	probably benign
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
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'- AACATCTCTGTACCCGTAGCTTG -3'
(R):5'- ACTTCCGGTCATACTGCTGC -3'

Sequencing Primer
(F):5'- TGTACCCGTAGCTTGCCAGG -3'
(R):5'- GCCTTCTCCCAAGCTGGTG -3'

Posted On

2020-01-23