Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Sptb'

73592

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sptb

Ensembl Gene

ENSMUSG00000021061

Gene Name

spectrin beta, erythrocytic

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

76627262-76757321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76634237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 2158 (D2158V)

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: D2158V

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

SMART Domains

Protein: ENSMUSP00000021458
Gene: ENSMUSG00000021061
AA Change: D2158V

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

noncoding transcript
Transcript: ENSMUST00000170532

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,931,410 (GRCm39)	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,694,528 (GRCm39)	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,151,352 (GRCm39)	M195L	possibly damaging	Het
Adrm1	A	G	2: 179,817,756 (GRCm39)		probably benign	Het
Atg13	T	A	2: 91,509,176 (GRCm39)	I457F	possibly damaging	Het
BC034090	T	C	1: 155,102,130 (GRCm39)	N45D	probably damaging	Het
C3	C	T	17: 57,516,652 (GRCm39)		probably benign	Het
Cacna1a	G	A	8: 85,249,657 (GRCm39)	G221D	probably damaging	Het
Calr	A	G	8: 85,573,335 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,248,557 (GRCm39)	V825I	probably damaging	Het
Chdh	T	G	14: 29,757,761 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,400,529 (GRCm39)	V627A	probably damaging	Het
Commd3	A	G	2: 18,677,289 (GRCm39)	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773 (GRCm39)	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,723,724 (GRCm39)		probably benign	Het
Dok7	G	A	5: 35,236,912 (GRCm39)	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,102,596 (GRCm39)	V523A	probably benign	Het
Fam171b	C	T	2: 83,709,791 (GRCm39)	Q488*	probably null	Het
Gabbr1	G	A	17: 37,359,499 (GRCm39)		probably null	Het
Gm5965	T	G	16: 88,575,219 (GRCm39)	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,392,244 (GRCm39)	D235G	probably damaging	Het
Grip1	A	T	10: 119,767,207 (GRCm39)	K111*	probably null	Het
Itih4	G	T	14: 30,613,706 (GRCm39)	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,633,314 (GRCm39)	Y266H	probably damaging	Het
Lrrc41	T	C	4: 115,953,663 (GRCm39)	L783P	probably damaging	Het
Map4k5	T	C	12: 69,888,737 (GRCm39)	D298G	probably benign	Het
Mapkbp1	T	C	2: 119,849,423 (GRCm39)	F712L	probably damaging	Het
Mcoln2	T	C	3: 145,869,282 (GRCm39)		probably benign	Het
Megf11	T	A	9: 64,588,698 (GRCm39)	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192 (GRCm39)	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185 (GRCm39)	I596M	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtmr9	A	G	14: 63,764,254 (GRCm39)	L491P	probably damaging	Het
Or4a66	T	G	2: 88,531,310 (GRCm39)	Y121S	probably damaging	Het
Or8b52	T	A	9: 38,576,289 (GRCm39)	I284L	probably benign	Het
Or9s13	T	C	1: 92,548,057 (GRCm39)	M143T	probably damaging	Het
Otor	T	C	2: 142,920,532 (GRCm39)	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,569,207 (GRCm39)	D118Y	probably damaging	Het
Prelp	T	C	1: 133,842,545 (GRCm39)	H200R	probably benign	Het
Prmt5	T	C	14: 54,747,334 (GRCm39)	Y481C	probably damaging	Het
Psg23	T	G	7: 18,348,465 (GRCm39)	D114A	probably damaging	Het
Ptger4	A	T	15: 5,272,239 (GRCm39)	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,528,368 (GRCm39)	V385L	probably benign	Het
Rergl	T	A	6: 139,470,256 (GRCm39)	K191*	probably null	Het
Sart3	A	G	5: 113,897,311 (GRCm39)	F252S	probably damaging	Het
Sbno1	A	T	5: 124,519,769 (GRCm39)	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,532,448 (GRCm39)	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,434,470 (GRCm39)	E747K	probably benign	Het
Sycp2	T	G	2: 177,999,904 (GRCm39)	D1024A	probably benign	Het
Tbr1	T	G	2: 61,636,411 (GRCm39)	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 122,770,717 (GRCm39)	I836F	probably benign	Het
Ttn	T	C	2: 76,769,091 (GRCm39)	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,778,026 (GRCm39)	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,652,424 (GRCm39)	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,787,997 (GRCm39)	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060 (GRCm39)	H353L	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
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
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

Posted On

2013-10-07