Mutagenetix > Incidental Mutation

Incidental Mutation 'R9601:Sptb'

726370

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R9601 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76627262-76757321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76667763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 778 (T778K)

Ref Sequence

ENSEMBL: ENSMUSP00000021458 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021458
AA Change: T778K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: T778K

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 damaging
Transcript: ENSMUST00000166101
AA Change: T778K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129782
Gene: ENSMUSG00000021061
AA Change: T778K

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,049,808 (GRCm38)	L246S	possibly damaging	Het
Ahcyl	A	G	16: 45,975,035 (GRCm39)	I114T	probably benign	Het
Arhgap22	C	A	14: 33,020,727 (GRCm39)	H107N	probably damaging	Het
Atp6v0a2	G	A	5: 124,790,257 (GRCm39)	G480D	probably damaging	Het
Baz2b	T	C	2: 59,731,847 (GRCm39)	T2064A	possibly damaging	Het
Bop1	T	A	15: 76,338,688 (GRCm39)	N449I	probably benign	Het
C8g	C	T	2: 25,388,916 (GRCm39)		probably null	Het
Camp	T	G	9: 109,677,504 (GRCm39)	T110P		Het
Ccdc141	T	C	2: 76,885,073 (GRCm39)	T523A	possibly damaging	Het
Ccdc157	A	T	11: 4,094,598 (GRCm39)	I578N	probably damaging	Het
Ccdc187	C	T	2: 26,143,445 (GRCm39)	A1298T	possibly damaging	Het
Cdc20	C	T	4: 118,290,716 (GRCm39)	W428*	probably null	Het
Chd9	A	T	8: 91,732,360 (GRCm39)	R1293*	probably null	Het
Clca3a1	C	T	3: 144,453,310 (GRCm39)	G505S	probably benign	Het
Clptm1	C	A	7: 19,369,763 (GRCm39)	W382C	probably damaging	Het
Cnot1	A	T	8: 96,482,835 (GRCm39)	N739K	probably benign	Het
Cntnap5a	T	C	1: 116,508,217 (GRCm39)	I1243T	probably damaging	Het
Col12a1	T	G	9: 79,525,034 (GRCm39)	D2709A	probably damaging	Het
Cpm	T	C	10: 117,511,999 (GRCm39)		probably null	Het
Ctsd	C	A	7: 141,936,373 (GRCm39)	G143C	probably damaging	Het
Cux2	A	G	5: 122,025,461 (GRCm39)	V69A	possibly damaging	Het
Cyp2c66	A	T	19: 39,175,054 (GRCm39)	I485L	probably benign	Het
Cyp4a29	T	C	4: 115,105,772 (GRCm39)	V158A	probably damaging	Het
Dbx1	A	T	7: 49,282,403 (GRCm39)	D267E	probably damaging	Het
Dop1b	A	G	16: 93,544,531 (GRCm39)	Y224C	possibly damaging	Het
Dsg3	T	A	18: 20,666,578 (GRCm39)	C596S	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,805 (GRCm39)	V1590I	possibly damaging	Het
Fgd2	G	A	17: 29,593,860 (GRCm39)	V456I	probably benign	Het
Gabra1	A	T	11: 42,026,401 (GRCm39)	I297N	probably damaging	Het
Grid1	A	G	14: 35,167,814 (GRCm39)	E446G	probably damaging	Het
H2bc12	T	C	13: 22,220,393 (GRCm39)	S113P	probably benign	Het
Hmmr	A	T	11: 40,598,210 (GRCm39)	Y667*	probably null	Het
Katnip	A	G	7: 125,442,092 (GRCm39)	Q693R	probably benign	Het
Klhl25	A	G	7: 75,515,757 (GRCm39)	D221G	probably damaging	Het
Krtcap2	T	C	3: 89,156,449 (GRCm39)		probably null	Het
Lipi	T	A	16: 75,352,706 (GRCm39)	N377I	possibly damaging	Het
Lrp2	C	A	2: 69,289,928 (GRCm39)	C3637F	probably damaging	Het
Mrgprh	T	C	17: 13,096,264 (GRCm39)	F168S	possibly damaging	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nkpd1	A	T	7: 19,257,462 (GRCm39)	I414F	probably damaging	Het
Or4c99	T	A	2: 88,330,314 (GRCm39)	M295K	probably damaging	Het
Or52z13	A	T	7: 103,246,598 (GRCm39)	D25V	probably benign	Het
Pcdhb21	A	T	18: 37,648,385 (GRCm39)	I505F	probably damaging	Het
Plxna1	C	T	6: 89,308,253 (GRCm39)	R1278Q	probably damaging	Het
Pofut2	T	C	10: 77,095,220 (GRCm39)	S22P	possibly damaging	Het
Prrc2b	C	A	2: 32,090,953 (GRCm39)	R442S	probably damaging	Het
Sema3e	T	A	5: 14,302,397 (GRCm39)	F641I	possibly damaging	Het
Sfswap	G	A	5: 129,618,463 (GRCm39)	V466I	possibly damaging	Het
Slc22a21	A	T	11: 53,850,051 (GRCm39)	V268E	possibly damaging	Het
Slc6a17	T	C	3: 107,380,930 (GRCm39)	D525G	possibly damaging	Het
Spata21	C	T	4: 140,822,467 (GRCm39)	T91I	possibly damaging	Het
Spryd7	T	G	14: 61,783,228 (GRCm39)	H98P	probably benign	Het
Syne1	C	T	10: 5,209,270 (GRCm39)	R3411Q	probably benign	Het
Trank1	A	G	9: 111,202,193 (GRCm39)	I1607V	probably benign	Het
Ttll1	T	C	15: 83,380,516 (GRCm39)	D283G	probably benign	Het
Ufl1	G	A	4: 25,275,807 (GRCm39)	R199W	probably benign	Het
Vmn1r159	A	G	7: 22,542,616 (GRCm39)	S139P	probably damaging	Het
Vmn2r97	A	G	17: 19,134,770 (GRCm39)	I63V	probably benign	Het
Vps13a	T	C	19: 16,623,337 (GRCm39)	S2775G	possibly damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	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
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
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'- TGTGTCCACGCAATTCTGC -3'
(R):5'- TTTGGACACCCACAGATCGAG -3'

Sequencing Primer
(F):5'- GCAATTCTGCCTGGGTCAGTAC -3'
(R):5'- CCGTGTCAAAGAAGTGTCAGCTC -3'

Posted On

2022-10-06