Mutagenetix > Incidental Mutation

Incidental Mutation 'R8907:Sptb'

678466

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

068763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R8907 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76627262-76757321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76634186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2175 (D2175G)

Ref Sequence

ENSEMBL: ENSMUSP00000021458 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021458
AA Change: D2175G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: D2175G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,398 (GRCm39)	I73V	probably damaging	Het
Agap3	T	C	5: 24,679,629 (GRCm39)	I109T	probably benign	Het
Ahnak	G	A	19: 8,986,452 (GRCm39)	V2579M	probably benign	Het
Akap13	T	C	7: 75,260,444 (GRCm39)	S220P	probably benign	Het
Akap13	C	G	7: 75,260,456 (GRCm39)	P224A	probably damaging	Het
Alpk1	G	A	3: 127,474,642 (GRCm39)	Q454*	probably null	Het
Asrgl1	C	T	19: 9,090,506 (GRCm39)	G280D	probably damaging	Het
Atp6v0d1	TTCTTACCTC	T	8: 106,251,782 (GRCm39)		probably benign	Het
Atxn2l	T	A	7: 126,099,425 (GRCm39)	D204V	probably damaging	Het
B430306N03Rik	T	C	17: 48,628,100 (GRCm39)	Y177H	probably damaging	Het
Bcl2l14	G	A	6: 134,400,585 (GRCm39)	C2Y	probably damaging	Het
Bltp1	T	A	3: 37,002,295 (GRCm39)	Y1413*	probably null	Het
Bphl	A	T	13: 34,230,930 (GRCm39)	M125L	possibly damaging	Het
Cdh10	A	T	15: 19,013,521 (GRCm39)	N707I	probably damaging	Het
Ceacam1	T	A	7: 25,171,444 (GRCm39)	D340V	possibly damaging	Het
Cklf	G	A	8: 104,977,671 (GRCm39)	V8I	probably benign	Het
Cln5	A	G	14: 103,310,711 (GRCm39)	N126S	probably damaging	Het
Col5a2	A	T	1: 45,456,106 (GRCm39)	M327K	probably benign	Het
Col6a6	A	T	9: 105,644,528 (GRCm39)	F1253L	probably damaging	Het
Crb2	G	A	2: 37,685,395 (GRCm39)	S1169N	probably benign	Het
Cspg4	A	T	9: 56,790,967 (GRCm39)	D72V	probably damaging	Het
Ctnnd2	C	T	15: 30,905,873 (GRCm39)	P840L	probably damaging	Het
Eea1	T	C	10: 95,826,274 (GRCm39)	Y105H	probably damaging	Het
Epha4	A	C	1: 77,483,422 (GRCm39)	S196A	probably damaging	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Fcamr	G	T	1: 130,740,328 (GRCm39)	G249V	probably damaging	Het
Fdxacb1	C	T	9: 50,681,451 (GRCm39)	T124I	probably damaging	Het
Fmn1	T	G	2: 113,355,914 (GRCm39)	L883R	unknown	Het
Frmd4b	T	C	6: 97,273,046 (GRCm39)	N782S	probably damaging	Het
Frmpd2	T	G	14: 33,248,380 (GRCm39)	C621W	probably damaging	Het
Fsip2	T	A	2: 82,816,984 (GRCm39)	V4239D	probably benign	Het
Gcnt4	A	G	13: 97,083,844 (GRCm39)	Y380C	probably damaging	Het
Gm7298	T	C	6: 121,741,817 (GRCm39)	V413A	probably benign	Het
Gstp3	C	T	19: 4,108,145 (GRCm39)	V93M	possibly damaging	Het
Helz2	A	T	2: 180,874,920 (GRCm39)	M1858K	possibly damaging	Het
Ighv1-7	T	A	12: 114,502,353 (GRCm39)	K38M	probably damaging	Het
Klri1	T	C	6: 129,680,283 (GRCm39)	K124R	probably null	Het
Kmt2c	A	T	5: 25,514,609 (GRCm39)	F3078Y	probably damaging	Het
Map4k4	C	T	1: 40,058,770 (GRCm39)	P988L	probably damaging	Het
Mmrn1	G	A	6: 60,953,077 (GRCm39)	E453K	probably damaging	Het
Muc5b	T	A	7: 141,417,875 (GRCm39)	V3607E	probably benign	Het
Myo15a	T	A	11: 60,417,434 (GRCm39)	I3461N		Het
Ngef	G	A	1: 87,405,376 (GRCm39)	S678F	probably damaging	Het
Npc1l1	A	T	11: 6,178,157 (GRCm39)	S418T	probably benign	Het
Nprl2	A	G	9: 107,421,995 (GRCm39)	D257G	probably damaging	Het
Or4c113	A	T	2: 88,885,542 (GRCm39)	V76D	probably damaging	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Pcf11	T	C	7: 92,302,451 (GRCm39)	T1220A	probably benign	Het
Pkhd1	T	C	1: 20,187,785 (GRCm39)	I3508V	possibly damaging	Het
Ppargc1a	A	T	5: 51,647,570 (GRCm39)	S258T	probably damaging	Het
Prom1	A	G	5: 44,159,135 (GRCm39)	Y830H	probably damaging	Het
Ptprm	T	A	17: 67,051,732 (GRCm39)	H1001L	probably damaging	Het
Rab8b	A	G	9: 66,826,807 (GRCm39)	F37L	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Sdk1	A	T	5: 142,070,278 (GRCm39)	I1148F	probably damaging	Het
Sec62	A	G	3: 30,864,621 (GRCm39)	K162E	unknown	Het
Serpinb13	A	T	1: 106,928,519 (GRCm39)	I380F	probably damaging	Het
St3gal6	T	C	16: 58,314,095 (GRCm39)	I13V	probably benign	Het
Tfpi2	A	T	6: 3,967,996 (GRCm39)	L48H	probably damaging	Het
Tmem121b	T	A	6: 120,469,707 (GRCm39)	I337F	probably damaging	Het
Tpbgl	T	C	7: 99,275,182 (GRCm39)	D225G	probably benign	Het
Trpa1	A	G	1: 14,959,664 (GRCm39)	V674A	probably benign	Het
Trpa1	A	G	1: 14,963,563 (GRCm39)	L553P	probably damaging	Het
Tyrp1	T	C	4: 80,755,798 (GRCm39)	V189A	probably damaging	Het
Vmn1r19	G	T	6: 57,381,991 (GRCm39)	M181I	probably benign	Het
Vmn2r10	T	C	5: 109,149,791 (GRCm39)	T418A	probably benign	Het
Zfp617	A	G	8: 72,686,927 (GRCm39)	Y419C	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
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'- CACCTCTGGCATCAAAGCTCTG -3'
(R):5'- AAAAGCTACCCTGGGCTGAC -3'

Sequencing Primer
(F):5'- CATCAAAGCTCTGCTGGTGGAG -3'
(R):5'- ATGAAGGCACGCTCCTCTC -3'

Posted On

2021-08-02