Mutagenetix > Incidental Mutation

Incidental Mutation 'R3038:Tspear'

477578

Institutional Source

Beutler Lab

Gene Symbol

Tspear

Ensembl Gene

ENSMUSG00000069581

Gene Name

thrombospondin type laminin G domain and EAR repeats

Synonyms

C330046G03Rik, ORF65

MMRRC Submission

040554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3038 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77522403-77722855 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 77722273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 624 (Y624*)

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366]

AlphaFold

J3S6Y1

Predicted Effect

probably null
Transcript: ENSMUST00000092366
AA Change: Y624*

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: Y624*

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000092368

SMART Domains

Protein: ENSMUSP00000090022
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
TSPN	3	174	2.24e-5	SMART
LamG	34	173	1.09e-1	SMART
low complexity region	293	303	N/A	INTRINSIC
Pfam:EPTP	311	357	3.4e-20	PFAM
Pfam:EPTP	362	409	4.9e-23	PFAM
Pfam:EPTP	414	461	3.1e-15	PFAM
Pfam:EPTP	464	519	2.2e-14	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bspry	A	G	4: 62,415,220 (GRCm39)	I468V	probably benign	Het
Cavin2	T	A	1: 51,340,416 (GRCm39)	N364K	possibly damaging	Het
Ces1f	T	A	8: 93,983,226 (GRCm39)	N506I	probably damaging	Het
Dnhd1	A	T	7: 105,369,436 (GRCm39)	Q4353L	probably damaging	Het
Dsc3	T	C	18: 20,124,617 (GRCm39)	T36A	possibly damaging	Het
Hydin	A	G	8: 111,309,321 (GRCm39)	T4038A	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	T	C	4: 149,297,790 (GRCm39)	I1083V	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mrgpra1	G	A	7: 46,984,744 (GRCm39)	Q312*	probably null	Het
Pcdha1	T	A	18: 37,064,064 (GRCm39)	F243I	probably damaging	Het
Ppp1r18	T	C	17: 36,179,274 (GRCm39)	L383P	probably damaging	Het
Tmed9	A	G	13: 55,744,792 (GRCm39)	K207E	probably damaging	Het
Tnfrsf19	A	G	14: 61,209,512 (GRCm39)	S253P	probably benign	Het
Vmn2r16	G	A	5: 109,487,199 (GRCm39)	C140Y	probably damaging	Het
Vwa7	T	C	17: 35,241,637 (GRCm39)	V424A	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,007,811 (GRCm39)		probably benign	Het

Other mutations in Tspear

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Tspear	APN	10	77,709,070 (GRCm39)	missense	probably benign	0.30
IGL01726:Tspear	APN	10	77,717,121 (GRCm39)	intron	probably benign
IGL02244:Tspear	APN	10	77,688,690 (GRCm39)	unclassified	probably benign
IGL02393:Tspear	APN	10	77,672,407 (GRCm39)	missense	probably damaging	1.00
IGL02502:Tspear	APN	10	77,688,792 (GRCm39)	intron	probably benign
IGL02653:Tspear	APN	10	77,542,799 (GRCm39)	utr 3 prime	probably benign
IGL03345:Tspear	APN	10	77,710,716 (GRCm39)	splice site	probably null
R0058:Tspear	UTSW	10	77,705,465 (GRCm39)	missense	probably benign	0.07
R0058:Tspear	UTSW	10	77,705,465 (GRCm39)	missense	probably benign	0.07
R0542:Tspear	UTSW	10	77,716,921 (GRCm39)	missense	probably benign	0.14
R1384:Tspear	UTSW	10	77,702,166 (GRCm39)	missense	probably benign	0.44
R1467:Tspear	UTSW	10	77,717,026 (GRCm39)	missense	probably damaging	1.00
R1467:Tspear	UTSW	10	77,717,026 (GRCm39)	missense	probably damaging	1.00
R1545:Tspear	UTSW	10	77,706,253 (GRCm39)	missense	possibly damaging	0.48
R1625:Tspear	UTSW	10	77,706,333 (GRCm39)	missense	probably benign	0.20
R1635:Tspear	UTSW	10	77,706,253 (GRCm39)	missense	possibly damaging	0.48
R1636:Tspear	UTSW	10	77,706,253 (GRCm39)	missense	possibly damaging	0.48
R1637:Tspear	UTSW	10	77,706,253 (GRCm39)	missense	possibly damaging	0.48
R1744:Tspear	UTSW	10	77,700,718 (GRCm39)	splice site	probably null
R1749:Tspear	UTSW	10	77,705,507 (GRCm39)	missense	probably benign	0.00
R1768:Tspear	UTSW	10	77,710,950 (GRCm39)	critical splice donor site	probably null
R1774:Tspear	UTSW	10	77,709,019 (GRCm39)	missense	probably benign	0.01
R1791:Tspear	UTSW	10	77,706,253 (GRCm39)	missense	possibly damaging	0.48
R1892:Tspear	UTSW	10	77,706,308 (GRCm39)	missense	probably benign	0.00
R2014:Tspear	UTSW	10	77,710,954 (GRCm39)	splice site	probably benign
R2108:Tspear	UTSW	10	77,706,253 (GRCm39)	missense	possibly damaging	0.48
R2248:Tspear	UTSW	10	77,709,103 (GRCm39)	missense	probably damaging	1.00
R4010:Tspear	UTSW	10	77,672,310 (GRCm39)	intron	probably benign
R4661:Tspear	UTSW	10	77,702,163 (GRCm39)	missense	probably benign	0.24
R4734:Tspear	UTSW	10	77,700,529 (GRCm39)	missense	probably damaging	0.99
R4789:Tspear	UTSW	10	77,702,199 (GRCm39)	missense	possibly damaging	0.63
R4804:Tspear	UTSW	10	77,612,791 (GRCm39)	splice site	probably null
R4904:Tspear	UTSW	10	77,705,489 (GRCm39)	missense	possibly damaging	0.93
R4937:Tspear	UTSW	10	77,710,877 (GRCm39)	missense	probably damaging	0.98
R4956:Tspear	UTSW	10	77,700,601 (GRCm39)	missense	possibly damaging	0.86
R5590:Tspear	UTSW	10	77,706,199 (GRCm39)	missense	probably benign
R6344:Tspear	UTSW	10	77,710,847 (GRCm39)	missense	possibly damaging	0.95
R6629:Tspear	UTSW	10	77,706,343 (GRCm39)	missense	probably benign	0.08
R7611:Tspear	UTSW	10	77,717,049 (GRCm39)	missense	probably benign	0.01
R8507:Tspear	UTSW	10	77,710,898 (GRCm39)	missense	probably benign	0.01
R8811:Tspear	UTSW	10	77,665,463 (GRCm39)	missense	probably benign	0.08
R8856:Tspear	UTSW	10	77,665,471 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2017-05-15