Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Tspear'

588611

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

045715-MU

Accession Numbers

Essential gene?

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

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77522403-77722855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77717049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 575 (T575S)

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

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

AlphaFold

J3S6Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000092366
AA Change: T575S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581
AA Change: T575S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Mug1	A	T	6: 121,852,387 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Smoc1	A	G	12: 81,226,444 (GRCm39)	D423G	probably damaging	Het
Spast	T	A	17: 74,676,198 (GRCm39)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Usp21	A	T	1: 171,113,142 (GRCm39)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	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
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
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'- TCTTGGTAAAAGGATGGCAGC -3'
(R):5'- ACAGCGATGGTCCTCATTATC -3'

Sequencing Primer
(F):5'- TCTAGGTCACCGGGCATAGTG -3'
(R):5'- ATCATGTCTACCTGCTCTGGATAAG -3'

Posted On

2019-10-24