Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Sptbn1'

283765

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sptbn1

Ensembl Gene

ENSMUSG00000020315

Gene Name

spectrin beta, non-erythrocytic 1

Synonyms

non-erythrocytic, Spnb-2, elf3, 9930031C03Rik, elf1, beta fodrin, brain spectrin, spectrin G, Spnb2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

30099395-30268175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30117871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1781 (D1781V)

Ref Sequence

ENSEMBL: ENSMUSP00000114841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006629] [ENSMUST00000011877] [ENSMUST00000102838] [ENSMUST00000124231]

AlphaFold

Q62261

Predicted Effect

probably damaging
Transcript: ENSMUST00000006629
AA Change: D1781V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006629
Gene: ENSMUSG00000020315
AA Change: D1781V

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
CH	56	156	3.02e-28	SMART
CH	175	273	8.73e-25	SMART
SPEC	305	411	2.03e0	SMART
SPEC	425	525	6.42e-26	SMART
SPEC	531	635	4.61e-27	SMART
SPEC	641	741	2.36e-33	SMART
SPEC	747	846	1.2e-25	SMART
SPEC	852	952	7.16e-24	SMART
SPEC	958	1059	6.58e-23	SMART
SPEC	1065	1166	1.79e-24	SMART
SPEC	1172	1272	2.2e-24	SMART
SPEC	1278	1377	5.18e-21	SMART
SPEC	1383	1482	1.02e-19	SMART
SPEC	1488	1589	7.2e-29	SMART
SPEC	1595	1695	8.03e-27	SMART
SPEC	1701	1802	9.73e-26	SMART
SPEC	1808	1908	9.82e-22	SMART
SPEC	1914	2014	8.68e-23	SMART
SPEC	2020	2162	3.1e-10	SMART
PH	2197	2308	1.64e-18	SMART
low complexity region	2312	2327	N/A	INTRINSIC
low complexity region	2343	2355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000011877
AA Change: D1781V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011877
Gene: ENSMUSG00000020315
AA Change: D1781V

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
CH	56	156	3.02e-28	SMART
CH	175	273	8.73e-25	SMART
SPEC	305	411	2.03e0	SMART
SPEC	425	525	6.42e-26	SMART
SPEC	531	635	4.61e-27	SMART
SPEC	641	741	2.36e-33	SMART
SPEC	747	846	1.2e-25	SMART
SPEC	852	952	7.16e-24	SMART
SPEC	958	1059	6.58e-23	SMART
SPEC	1065	1166	1.79e-24	SMART
SPEC	1172	1272	2.2e-24	SMART
SPEC	1278	1377	5.18e-21	SMART
SPEC	1383	1482	1.02e-19	SMART
SPEC	1488	1589	7.2e-29	SMART
SPEC	1595	1695	8.03e-27	SMART
SPEC	1701	1802	9.73e-26	SMART
SPEC	1808	1908	9.82e-22	SMART
SPEC	1914	2014	8.68e-23	SMART
SPEC	2020	2162	3.1e-10	SMART
PH	2197	2308	1.64e-18	SMART
low complexity region	2312	2327	N/A	INTRINSIC
low complexity region	2343	2355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102838
AA Change: D1768V

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

SMART Domains

Protein: ENSMUSP00000099902
Gene: ENSMUSG00000020315
AA Change: D1768V

Domain	Start	End	E-Value	Type
CH	43	143	3.02e-28	SMART
CH	162	260	8.73e-25	SMART
SPEC	292	398	2.03e0	SMART
SPEC	412	512	6.42e-26	SMART
SPEC	518	622	4.61e-27	SMART
SPEC	628	728	2.36e-33	SMART
SPEC	734	833	1.2e-25	SMART
SPEC	839	939	7.16e-24	SMART
SPEC	945	1046	6.58e-23	SMART
SPEC	1052	1153	1.79e-24	SMART
SPEC	1159	1259	2.2e-24	SMART
SPEC	1265	1364	5.18e-21	SMART
SPEC	1370	1469	1.02e-19	SMART
SPEC	1475	1576	7.2e-29	SMART
SPEC	1582	1682	8.03e-27	SMART
SPEC	1688	1789	9.73e-26	SMART
SPEC	1795	1895	9.82e-22	SMART
SPEC	1901	2001	8.68e-23	SMART
SPEC	2007	2114	2.66e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124231
AA Change: D1781V

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

SMART Domains

Protein: ENSMUSP00000114841
Gene: ENSMUSG00000020315
AA Change: D1781V

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
CH	56	156	3.02e-28	SMART
CH	175	273	8.73e-25	SMART
SPEC	305	411	2.03e0	SMART
SPEC	425	525	6.42e-26	SMART
SPEC	531	635	4.61e-27	SMART
SPEC	641	741	2.36e-33	SMART
SPEC	747	846	1.2e-25	SMART
SPEC	852	952	7.16e-24	SMART
SPEC	958	1059	6.58e-23	SMART
SPEC	1065	1166	1.79e-24	SMART
SPEC	1172	1272	2.2e-24	SMART
SPEC	1278	1377	5.18e-21	SMART
SPEC	1383	1482	1.02e-19	SMART
SPEC	1488	1589	7.2e-29	SMART
SPEC	1595	1695	8.03e-27	SMART
SPEC	1701	1802	9.73e-26	SMART
SPEC	1808	1908	9.82e-22	SMART
SPEC	1914	2014	8.68e-23	SMART
SPEC	2020	2092	6.42e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to mid-gestational lethality due to gastrointestinal, liver, neural, and cardiac defects, whereas heterozygotes survive until adulthood and spontaneously develop cancers in several organs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,230	K57E	probably damaging	Het
9930111J21Rik1	A	T	11: 48,947,421	Y780N	probably benign	Het
Aadacl2	T	C	3: 60,025,188	S375P	probably damaging	Het
Abi1	A	C	2: 23,040,064	M1R	probably null	Het
Acss1	T	C	2: 150,629,868	D322G	probably damaging	Het
Adam22	G	A	5: 8,330,029	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,500,461	H515R	probably benign	Het
BC003331	G	T	1: 150,372,033	N356K	possibly damaging	Het
C3	T	C	17: 57,220,113	K779E	probably benign	Het
Cfhr2	A	G	1: 139,821,759	Y162H	probably damaging	Het
Chchd5	T	C	2: 129,133,268		probably benign	Het
Csmd1	T	A	8: 16,271,606	I493F	probably damaging	Het
Daam1	A	T	12: 71,946,285	R349S	unknown	Het
Dnah11	T	C	12: 118,082,579	E1708G	probably benign	Het
Epg5	A	G	18: 78,012,870	D1753G	probably damaging	Het
Flt4	T	G	11: 49,626,003	C206G	probably damaging	Het
Fscn1	G	T	5: 142,960,620	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,728,544	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121	S70T	possibly damaging	Het
H2-K1	A	G	17: 33,999,492	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,742,138	I290L	probably benign	Het
Iws1	A	G	18: 32,093,125	R689G	probably damaging	Het
Klk1b22	A	G	7: 44,116,206		probably null	Het
Klra4	T	A	6: 130,044,142	D230V	possibly damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lilra5	A	T	7: 4,237,969	M21L	probably benign	Het
Lrrc20	T	A	10: 61,527,108	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,209,317	M426L	probably damaging	Het
Mylk2	C	T	2: 152,915,154	P283L	probably damaging	Het
Mynn	T	A	3: 30,613,544		probably benign	Het
Olfr1231	A	C	2: 89,303,297	C98W	probably damaging	Het
Parl	T	A	16: 20,297,703	I116F	probably damaging	Het
Pdlim3	T	C	8: 45,885,593	V5A	probably damaging	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Ptprf	T	A	4: 118,213,642		probably benign	Het
Ptprn	A	G	1: 75,258,495	S170P	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rps27a	C	A	11: 29,546,772	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,754,838		probably benign	Het
Scube3	G	T	17: 28,162,996	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,345,339		probably null	Het
Sh3tc2	A	G	18: 61,990,622	E818G	probably benign	Het
Slc16a3	G	A	11: 120,956,771	V262I	probably benign	Het
Ssr1	C	T	13: 37,987,516		probably null	Het
Tep1	A	G	14: 50,826,826	L2442S	probably benign	Het
Tonsl	A	T	15: 76,623,178	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,639,157	H468L	probably benign	Het
Ttc27	C	T	17: 74,729,899	T189M	probably damaging	Het
Ttn	T	C	2: 76,890,156		probably benign	Het
Ttn	T	G	2: 76,759,895	I21157L	probably damaging	Het
Vav3	T	A	3: 109,525,960		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Sptbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Sptbn1	APN	11	30110818	nonsense	probably null
IGL01098:Sptbn1	APN	11	30159385	missense	probably damaging	1.00
IGL01843:Sptbn1	APN	11	30104623	missense	probably benign	0.02
IGL02070:Sptbn1	APN	11	30145979	missense	probably damaging	0.99
IGL02075:Sptbn1	APN	11	30138496	missense	probably damaging	1.00
IGL02094:Sptbn1	APN	11	30100659	missense	probably benign	0.01
IGL02102:Sptbn1	APN	11	30137427	missense	probably damaging	1.00
IGL02256:Sptbn1	APN	11	30120990	missense	probably benign	0.24
IGL02301:Sptbn1	APN	11	30142129	missense	probably damaging	1.00
IGL02354:Sptbn1	APN	11	30110783	missense	probably damaging	1.00
IGL02361:Sptbn1	APN	11	30110783	missense	probably damaging	1.00
IGL02377:Sptbn1	APN	11	30119491	missense	possibly damaging	0.92
IGL02504:Sptbn1	APN	11	30142293	missense	probably damaging	1.00
IGL02672:Sptbn1	APN	11	30137239	missense	probably damaging	1.00
IGL02733:Sptbn1	APN	11	30197747	missense	probably benign	0.12
IGL02755:Sptbn1	APN	11	30142247	missense	probably damaging	1.00
R0006:Sptbn1	UTSW	11	30123855	missense	probably damaging	1.00
R0006:Sptbn1	UTSW	11	30123855	missense	probably damaging	1.00
R0096:Sptbn1	UTSW	11	30114739	missense	probably damaging	1.00
R0139:Sptbn1	UTSW	11	30142289	missense	probably benign	0.00
R0370:Sptbn1	UTSW	11	30121545	missense	probably benign
R0389:Sptbn1	UTSW	11	30139250	missense	possibly damaging	0.95
R0415:Sptbn1	UTSW	11	30149576	missense	probably damaging	1.00
R0552:Sptbn1	UTSW	11	30145985	missense	possibly damaging	0.92
R0601:Sptbn1	UTSW	11	30150008	missense	probably damaging	1.00
R0609:Sptbn1	UTSW	11	30138979	missense	probably damaging	1.00
R0675:Sptbn1	UTSW	11	30117903	missense	probably damaging	1.00
R0708:Sptbn1	UTSW	11	30114739	missense	probably damaging	1.00
R0711:Sptbn1	UTSW	11	30114739	missense	probably damaging	1.00
R0729:Sptbn1	UTSW	11	30110902	missense	probably damaging	0.96
R0755:Sptbn1	UTSW	11	30139016	missense	probably damaging	1.00
R0892:Sptbn1	UTSW	11	30142201	missense	probably damaging	1.00
R0927:Sptbn1	UTSW	11	30121591	missense	probably damaging	1.00
R1102:Sptbn1	UTSW	11	30120785	missense	possibly damaging	0.93
R1460:Sptbn1	UTSW	11	30138637	missense	possibly damaging	0.50
R1479:Sptbn1	UTSW	11	30113909	missense	probably damaging	1.00
R1496:Sptbn1	UTSW	11	30121498	missense	probably damaging	1.00
R1649:Sptbn1	UTSW	11	30137301	missense	probably damaging	0.97
R1663:Sptbn1	UTSW	11	30120783	missense	possibly damaging	0.53
R1671:Sptbn1	UTSW	11	30142245	missense	possibly damaging	0.57
R1680:Sptbn1	UTSW	11	30159371	missense	possibly damaging	0.92
R1695:Sptbn1	UTSW	11	30136124	missense	probably benign	0.13
R1868:Sptbn1	UTSW	11	30114781	missense	possibly damaging	0.70
R1918:Sptbn1	UTSW	11	30142414	missense	probably damaging	1.00
R1921:Sptbn1	UTSW	11	30104469	missense	probably damaging	0.98
R2026:Sptbn1	UTSW	11	30104559	missense	probably benign	0.02
R2038:Sptbn1	UTSW	11	30159293	critical splice donor site	probably null
R2047:Sptbn1	UTSW	11	30138360	splice site	probably benign
R2312:Sptbn1	UTSW	11	30154249	missense	probably damaging	1.00
R3430:Sptbn1	UTSW	11	30219686	missense	possibly damaging	0.67
R3624:Sptbn1	UTSW	11	30140593	missense	probably damaging	1.00
R3723:Sptbn1	UTSW	11	30137335	missense	possibly damaging	0.59
R3862:Sptbn1	UTSW	11	30142329	missense	possibly damaging	0.63
R4446:Sptbn1	UTSW	11	30139114	missense	possibly damaging	0.70
R4582:Sptbn1	UTSW	11	30219597	missense	probably damaging	1.00
R4705:Sptbn1	UTSW	11	30100660	missense	probably benign
R4707:Sptbn1	UTSW	11	30137197	missense	possibly damaging	0.61
R4718:Sptbn1	UTSW	11	30154297	missense	probably damaging	1.00
R4789:Sptbn1	UTSW	11	30117759	missense	probably benign
R4824:Sptbn1	UTSW	11	30118295	missense	possibly damaging	0.72
R4855:Sptbn1	UTSW	11	30142353	missense	probably damaging	1.00
R5009:Sptbn1	UTSW	11	30124016	missense	probably benign	0.05
R5071:Sptbn1	UTSW	11	30113854	critical splice donor site	probably null
R5153:Sptbn1	UTSW	11	30121510	missense	possibly damaging	0.82
R5334:Sptbn1	UTSW	11	30137364	missense	possibly damaging	0.92
R5462:Sptbn1	UTSW	11	30100520	missense	possibly damaging	0.94
R5523:Sptbn1	UTSW	11	30137560	missense	probably damaging	1.00
R5707:Sptbn1	UTSW	11	30143174	missense	possibly damaging	0.65
R5724:Sptbn1	UTSW	11	30144113	missense	possibly damaging	0.91
R5738:Sptbn1	UTSW	11	30145941	missense	probably damaging	1.00
R5864:Sptbn1	UTSW	11	30145925	missense	probably damaging	1.00
R5895:Sptbn1	UTSW	11	30123978	missense	probably damaging	0.99
R5932:Sptbn1	UTSW	11	30136136	missense	probably damaging	1.00
R5966:Sptbn1	UTSW	11	30124873	missense	probably damaging	1.00
R5984:Sptbn1	UTSW	11	30118464	missense	probably damaging	1.00
R6155:Sptbn1	UTSW	11	30137403	missense	probably damaging	0.99
R6163:Sptbn1	UTSW	11	30159443	nonsense	probably null
R6226:Sptbn1	UTSW	11	30136054	missense	probably damaging	1.00
R6271:Sptbn1	UTSW	11	30100660	missense	probably benign	0.00
R6443:Sptbn1	UTSW	11	30139429	missense	possibly damaging	0.56
R6591:Sptbn1	UTSW	11	30113984	missense	probably damaging	0.99
R6616:Sptbn1	UTSW	11	30124030	missense	probably benign	0.08
R6691:Sptbn1	UTSW	11	30113984	missense	probably damaging	0.99
R6751:Sptbn1	UTSW	11	30117859	missense	probably damaging	1.00
R6823:Sptbn1	UTSW	11	30114787	missense	probably damaging	1.00
R6863:Sptbn1	UTSW	11	30146777	missense	possibly damaging	0.94
R6885:Sptbn1	UTSW	11	30138634	missense	probably benign	0.26
R6892:Sptbn1	UTSW	11	30142187	missense	probably benign	0.27
R6998:Sptbn1	UTSW	11	30100633	missense	probably damaging	0.97
R7043:Sptbn1	UTSW	11	30103323	missense	probably benign	0.02
R7092:Sptbn1	UTSW	11	30137119	missense	possibly damaging	0.75
R7272:Sptbn1	UTSW	11	30114859	missense	possibly damaging	0.93
R7301:Sptbn1	UTSW	11	30117798	nonsense	probably null
R7379:Sptbn1	UTSW	11	30139292	missense	possibly damaging	0.72
R7774:Sptbn1	UTSW	11	30142142	missense	probably damaging	0.99
R7813:Sptbn1	UTSW	11	30138455	missense	probably damaging	1.00
R7837:Sptbn1	UTSW	11	30138832	missense	probably damaging	1.00
R7843:Sptbn1	UTSW	11	30154320	missense	probably damaging	1.00
R7846:Sptbn1	UTSW	11	30142153	missense	probably damaging	0.98
R7877:Sptbn1	UTSW	11	30129601	missense	possibly damaging	0.94
R7902:Sptbn1	UTSW	11	30136048	missense	probably damaging	1.00
R8060:Sptbn1	UTSW	11	30101616	missense	probably damaging	0.99
R8116:Sptbn1	UTSW	11	30139117	missense	probably damaging	1.00
R8169:Sptbn1	UTSW	11	30197783	missense	possibly damaging	0.62
R8208:Sptbn1	UTSW	11	30124972	missense	probably damaging	1.00
R8247:Sptbn1	UTSW	11	30113906	missense	possibly damaging	0.84
R8412:Sptbn1	UTSW	11	30138457	missense	probably damaging	1.00
R8470:Sptbn1	UTSW	11	30120758	missense	possibly damaging	0.78
R8544:Sptbn1	UTSW	11	30219750	start gained	probably benign
R8674:Sptbn1	UTSW	11	30139352	missense	possibly damaging	0.73
R8846:Sptbn1	UTSW	11	30125009	missense	possibly damaging	0.77
R8889:Sptbn1	UTSW	11	30117800	missense	probably benign	0.03
R8892:Sptbn1	UTSW	11	30117800	missense	probably benign	0.03
R8927:Sptbn1	UTSW	11	30138962	missense	probably damaging	1.00
R8928:Sptbn1	UTSW	11	30138962	missense	probably damaging	1.00
R8975:Sptbn1	UTSW	11	30123869	missense	possibly damaging	0.86
R9115:Sptbn1	UTSW	11	30137526	missense	probably damaging	1.00
R9127:Sptbn1	UTSW	11	30154356	missense	probably damaging	1.00
R9193:Sptbn1	UTSW	11	30137551	missense	possibly damaging	0.77
R9237:Sptbn1	UTSW	11	30146803	missense	probably damaging	1.00
Z1176:Sptbn1	UTSW	11	30137439	missense	probably damaging	1.00
Z1176:Sptbn1	UTSW	11	30197787	missense	probably benign	0.13
Z1177:Sptbn1	UTSW	11	30114734	missense	probably damaging	1.00
Z1177:Sptbn1	UTSW	11	30120659	missense	probably benign	0.27

Posted On

2015-04-16