Mutagenetix > Incidental Mutation

Incidental Mutation 'R5631:Thumpd1'

439855

Institutional Source

Beutler Lab

Gene Symbol

Thumpd1

Ensembl Gene

ENSMUSG00000030942

Gene Name

THUMP domain containing 1

Synonyms

6330575P11Rik

MMRRC Submission

043282-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R5631 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

119314316-119320021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119319825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 47 (L47P)

Ref Sequence

ENSEMBL: ENSMUSP00000033236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033236]

AlphaFold

Q99J36

Predicted Effect

probably damaging
Transcript: ENSMUST00000033236
AA Change: L47P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: L47P

Domain	Start	End	E-Value	Type
THUMP	161	254	4.5e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209175

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,067,590 (GRCm39)	V567L	possibly damaging	Het
Abraxas1	T	G	5: 100,965,840 (GRCm39)	Y68S	probably damaging	Het
Adamtsl1	C	T	4: 86,195,160 (GRCm39)	Q543*	probably null	Het
Anapc1	T	C	2: 128,499,137 (GRCm39)	Y845C	possibly damaging	Het
Ap4m1	A	G	5: 138,173,051 (GRCm39)	*98W	probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cramp1	T	A	17: 25,204,577 (GRCm39)	T275S	possibly damaging	Het
Dock3	T	C	9: 106,832,898 (GRCm39)	S1038G	probably benign	Het
Fancm	T	C	12: 65,160,617 (GRCm39)	V1397A	probably damaging	Het
Fn1	T	C	1: 71,629,355 (GRCm39)	T2203A	probably damaging	Het
Gm57858	G	C	3: 36,101,026 (GRCm39)	Q49E	probably damaging	Het
Heatr5a	T	A	12: 52,002,310 (GRCm39)	I209F	probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hpx	A	T	7: 105,244,808 (GRCm39)	C126S	probably damaging	Het
Ipo4	A	G	14: 55,869,526 (GRCm39)	V378A	probably damaging	Het
Ipo4	C	T	14: 55,870,838 (GRCm39)	V265I	probably benign	Het
Kcnv1	T	A	15: 44,972,753 (GRCm39)	T377S	probably damaging	Het
Kmt2a	A	T	9: 44,731,985 (GRCm39)		probably benign	Het
Ldlrad3	T	C	2: 101,900,301 (GRCm39)	D67G	probably damaging	Het
Lrrc71	T	A	3: 87,646,456 (GRCm39)	M535L	probably benign	Het
Mfhas1	G	A	8: 36,055,573 (GRCm39)	R16Q	probably damaging	Het
Mrc1	A	T	2: 14,333,383 (GRCm39)	K1355*	probably null	Het
Mrgprf	A	G	7: 144,862,283 (GRCm39)	I282V	probably benign	Het
Mvb12b	G	T	2: 33,717,715 (GRCm39)	P142Q	probably damaging	Het
Naip6	T	C	13: 100,436,646 (GRCm39)	I626V	probably benign	Het
Ncoa5	T	C	2: 164,855,041 (GRCm39)	D27G	possibly damaging	Het
Nrap	T	G	19: 56,342,553 (GRCm39)	E780A	probably benign	Het
Oplah	T	C	15: 76,189,441 (GRCm39)	I228V	probably benign	Het
Or5w1b	A	T	2: 87,475,952 (GRCm39)	S172T	probably benign	Het
Pkdrej	T	C	15: 85,704,638 (GRCm39)	M433V	probably benign	Het
Polr3h	T	A	15: 81,810,113 (GRCm39)		probably benign	Het
Ppfibp1	T	C	6: 146,898,358 (GRCm39)	Y105H	probably damaging	Het
Rplp2	A	C	7: 141,031,172 (GRCm39)		probably benign	Het
Rps6ka4	T	C	19: 6,808,345 (GRCm39)		probably benign	Het
Rspry1	A	T	8: 95,355,706 (GRCm39)	M1L	possibly damaging	Het
Runx1	C	A	16: 92,492,451 (GRCm39)	R64L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc9a5	C	T	8: 106,076,141 (GRCm39)	H45Y	possibly damaging	Het
Smc4	T	C	3: 68,937,645 (GRCm39)	I890T	probably benign	Het
Smtnl1	T	C	2: 84,649,098 (GRCm39)	E52G	probably benign	Het
Stag3	T	A	5: 138,294,139 (GRCm39)	I319N	probably damaging	Het
Stt3b	G	A	9: 115,083,913 (GRCm39)	T421I	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	T	C	14: 16,409,882 (GRCm38)	Y850H	probably damaging	Het
Trim34a	A	T	7: 103,897,946 (GRCm39)	E158V	probably damaging	Het
Trp53i13	C	A	11: 77,400,419 (GRCm39)		probably null	Het
Ugt3a1	T	C	15: 9,361,971 (GRCm39)	V249A	probably damaging	Het
Vmn1r128	G	A	7: 21,083,300 (GRCm39)	M1I	probably null	Het
Yars1	T	G	4: 129,103,542 (GRCm39)	L297R	probably damaging	Het
Yju2b	G	T	8: 84,990,510 (GRCm39)	Q41K	probably damaging	Het
Zkscan3	A	G	13: 21,578,703 (GRCm39)	L176P	probably damaging	Het

Other mutations in Thumpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Thumpd1	APN	7	119,316,232 (GRCm39)	missense	possibly damaging	0.95
IGL01151:Thumpd1	APN	7	119,317,418 (GRCm39)	missense	probably damaging	0.97
IGL01327:Thumpd1	APN	7	119,319,925 (GRCm39)	missense	probably benign	0.12
IGL02140:Thumpd1	APN	7	119,316,232 (GRCm39)	missense	possibly damaging	0.95
IGL02945:Thumpd1	APN	7	119,315,970 (GRCm39)	missense	possibly damaging	0.48
F6893:Thumpd1	UTSW	7	119,319,799 (GRCm39)	nonsense	probably null
R4153:Thumpd1	UTSW	7	119,319,816 (GRCm39)	missense	probably damaging	1.00
R4934:Thumpd1	UTSW	7	119,316,002 (GRCm39)	missense	probably benign	0.00
R5475:Thumpd1	UTSW	7	119,319,943 (GRCm39)	missense	probably benign
R6123:Thumpd1	UTSW	7	119,316,232 (GRCm39)	missense	probably damaging	1.00
R6292:Thumpd1	UTSW	7	119,319,897 (GRCm39)	missense	probably benign	0.38
R6351:Thumpd1	UTSW	7	119,319,828 (GRCm39)	missense	possibly damaging	0.94
R7565:Thumpd1	UTSW	7	119,316,085 (GRCm39)	nonsense	probably null
R8139:Thumpd1	UTSW	7	119,319,808 (GRCm39)	missense	possibly damaging	0.82
R8951:Thumpd1	UTSW	7	119,317,471 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGTCATTCAAGCACTGTACTGG -3'
(R):5'- AAACTGTCGCGTACGTGTGAC -3'

Sequencing Primer
(F):5'- CAAGCACTGTACTGGCGCTTTG -3'
(R):5'- TCCGCGCAGACGAAGAC -3'

Posted On

2016-11-08