Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Tspear'

34360

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

038352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0058 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

77522403-77722855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77705465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 288 (F288L)

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

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

AlphaFold

J3S6Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000092366
AA Change: F288L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: F288L

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

Meta Mutation Damage Score

0.1355

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	G	5: 137,289,104 (GRCm39)	V270G	probably damaging	Het
Acss1	A	T	2: 150,470,459 (GRCm39)	W394R	probably damaging	Het
Adgrv1	A	G	13: 81,330,791 (GRCm39)	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,580,691 (GRCm39)		probably benign	Het
Anxa1	A	T	19: 20,361,141 (GRCm39)	Y84N	probably damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,527,524 (GRCm39)	T16A	probably benign	Het
Bpifb1	G	A	2: 154,048,460 (GRCm39)	R165H	possibly damaging	Het
Cables1	A	G	18: 12,056,470 (GRCm39)	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,761,629 (GRCm39)	I427L	probably damaging	Het
Ccdc97	T	C	7: 25,415,405 (GRCm39)	D86G	probably benign	Het
Cgnl1	C	A	9: 71,548,679 (GRCm39)	D1081Y	probably damaging	Het
Cgnl1	T	A	9: 71,632,122 (GRCm39)	R410W	probably damaging	Het
Cntnap4	G	A	8: 113,512,416 (GRCm39)	E593K	probably damaging	Het
Dazap1	T	C	10: 80,097,415 (GRCm39)		probably benign	Het
Dip2b	A	G	15: 100,113,121 (GRCm39)	E1512G	probably benign	Het
Dock1	G	A	7: 134,710,490 (GRCm39)	V1171M	possibly damaging	Het
Dock5	A	T	14: 68,018,485 (GRCm39)	F1230Y	probably benign	Het
Dym	G	A	18: 75,176,243 (GRCm39)	E15K	possibly damaging	Het
Ednra	C	A	8: 78,393,951 (GRCm39)		probably null	Het
Faf1	A	G	4: 109,593,821 (GRCm39)	Q133R	probably benign	Het
Fbxw28	A	G	9: 109,157,279 (GRCm39)	I323T	probably benign	Het
Fcer2a	T	C	8: 3,738,111 (GRCm39)		probably benign	Het
Fmo2	A	T	1: 162,713,893 (GRCm39)	S204R	probably benign	Het
Frmd4b	A	G	6: 97,400,460 (GRCm39)	V63A	probably damaging	Het
Fzd8	G	A	18: 9,213,985 (GRCm39)	A356T	possibly damaging	Het
Ghitm	A	G	14: 36,853,549 (GRCm39)	L97P	probably damaging	Het
Gins4	A	G	8: 23,719,526 (GRCm39)		probably benign	Het
Golga3	T	A	5: 110,350,643 (GRCm39)	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Helz	A	T	11: 107,563,384 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,820,231 (GRCm39)	V2851A	possibly damaging	Het
Igkv8-18	G	A	6: 70,333,105 (GRCm39)		probably benign	Het
Igll1	A	T	16: 16,681,740 (GRCm39)	V5E	probably benign	Het
Irx3	T	C	8: 92,527,168 (GRCm39)	T179A	possibly damaging	Het
Kif16b	A	G	2: 142,699,225 (GRCm39)		probably null	Het
Limk1	A	T	5: 134,688,725 (GRCm39)	W507R	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mtif3	C	A	5: 146,893,731 (GRCm39)	V159F	probably benign	Het
Myh6	C	T	14: 55,200,861 (GRCm39)	R169Q	probably damaging	Het
Ncoa7	T	A	10: 30,523,537 (GRCm39)	D887V	probably damaging	Het
Obox7	C	T	7: 14,398,313 (GRCm39)	P76S	probably benign	Het
Or10ak12	A	G	4: 118,666,677 (GRCm39)	M128T	probably benign	Het
Or11l3	A	T	11: 58,516,494 (GRCm39)	I126N	probably damaging	Het
Pitpnm2	G	A	5: 124,262,093 (GRCm39)	A862V	probably damaging	Het
Pkd1	G	C	17: 24,783,677 (GRCm39)	A162P	probably benign	Het
Plce1	A	G	19: 38,513,628 (GRCm39)	D309G	possibly damaging	Het
Plk4	T	C	3: 40,760,307 (GRCm39)	V401A	probably benign	Het
Prdx3	T	C	19: 60,862,950 (GRCm39)		probably benign	Het
Prrc2c	C	T	1: 162,526,453 (GRCm39)	V253I	unknown	Het
Ranbp2	T	A	10: 58,316,353 (GRCm39)	S2358T	probably damaging	Het
Setd2	T	A	9: 110,423,494 (GRCm39)	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,432,953 (GRCm39)	S232C	probably damaging	Het
Skint6	A	T	4: 112,904,012 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,909 (GRCm39)	I531T	probably benign	Het
Slc36a1	C	T	11: 55,112,820 (GRCm39)		probably benign	Het
Sorbs2	T	A	8: 46,238,291 (GRCm39)		probably null	Het
Sorbs2	C	A	8: 46,249,300 (GRCm39)	D831E	probably damaging	Het
Sptan1	T	C	2: 29,883,708 (GRCm39)		probably null	Het
Stam	T	C	2: 14,142,952 (GRCm39)	C336R	probably damaging	Het
Stil	G	T	4: 114,898,495 (GRCm39)	A1042S	probably damaging	Het
Stxbp5l	T	A	16: 36,962,736 (GRCm39)	D773V	possibly damaging	Het
Sugct	A	T	13: 17,847,166 (GRCm39)	L39Q	probably damaging	Het
Tep1	A	G	14: 51,071,522 (GRCm39)	V2041A	possibly damaging	Het
Tex15	C	T	8: 34,071,530 (GRCm39)		probably benign	Het
Tlr9	T	G	9: 106,102,164 (GRCm39)	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,343,579 (GRCm39)		probably benign	Het
Triml2	T	C	8: 43,638,306 (GRCm39)		probably benign	Het
Trip6	A	G	5: 137,309,107 (GRCm39)		probably benign	Het
Vmn1r179	C	T	7: 23,628,592 (GRCm39)	T261I	possibly damaging	Het
Zfp644	A	T	5: 106,784,869 (GRCm39)	S559R	possibly 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
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
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'- AAGGACCATTGGGGCTTAGACACC -3'
(R):5'- GGAGAAAACATCCTGGCTTGCCTG -3'

Sequencing Primer
(F):5'- GGGCTTAGACACCTTGCATAG -3'
(R):5'- ACCTGCTACTGAAGTGGCTC -3'

Posted On

2013-05-09