Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Tspear'

174978

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

039662-MU

Accession Numbers

Essential gene?

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

Stock #

R1625 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

77522403-77722855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77706333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 368 (I368V)

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

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

AlphaFold

J3S6Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000092366
AA Change: I368V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: I368V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125241

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	probably damaging	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
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
R3038:Tspear	UTSW	10	77,722,273 (GRCm39)	nonsense	probably null
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

PCR Primer
(F):5'- CGTTGAAGAACACCAGAGTCTGCAC -3'
(R):5'- TTTAAGCTGGAACCACTTCTGCCC -3'

Sequencing Primer
(F):5'- GAGTCTGCACACCAACTCAG -3'
(R):5'- tcagacacacaccagaagag -3'

Posted On

2014-04-24