Mutagenetix > Incidental Mutation

Incidental Mutation 'R6292:Thumpd1'

508501

Institutional Source

Beutler Lab

Gene Symbol

Thumpd1

Ensembl Gene

ENSMUSG00000030942

Gene Name

THUMP domain containing 1

Synonyms

6330575P11Rik

MMRRC Submission

044461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R6292 (G1)

Quality Score

158.009

Status

Validated

Chromosome

Chromosomal Location

119314316-119320021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119319897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 23 (L23Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033236 (fasta)

Gene Model

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

AlphaFold

Q99J36

Predicted Effect

probably benign
Transcript: ENSMUST00000033236
AA Change: L23Q

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: L23Q

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,338,312 (GRCm39)	V709E	probably damaging	Het
Ankrd33b	C	T	15: 31,325,231 (GRCm39)		probably null	Het
Apaf1	T	C	10: 90,827,425 (GRCm39)	T1202A	possibly damaging	Het
Apip	G	T	2: 102,922,812 (GRCm39)	C210F	probably benign	Het
Chd9	A	T	8: 91,659,550 (GRCm39)	H170L	probably benign	Het
Clec16a	T	C	16: 10,378,015 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,500,935 (GRCm39)		probably benign	Het
Etl4	C	T	2: 20,748,384 (GRCm39)	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,293,427 (GRCm39)	I218F	probably damaging	Het
Gm5141	A	T	13: 62,922,252 (GRCm39)	C306S	probably damaging	Het
Gm9961	C	T	16: 11,748,336 (GRCm39)		noncoding transcript	Het
Gpr27	C	T	6: 99,670,619 (GRCm39)	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,856,005 (GRCm39)	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,772,133 (GRCm39)	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,828,110 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,338 (GRCm39)	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,593,426 (GRCm39)	N418K	probably damaging	Het
Miga1	A	G	3: 152,023,356 (GRCm39)	F232L	probably benign	Het
Mkrn2	T	A	6: 115,590,295 (GRCm39)	M217K	probably damaging	Het
Myh7b	A	T	2: 155,474,316 (GRCm39)	Q1677L	probably damaging	Het
N4bp1	T	C	8: 87,579,867 (GRCm39)	E645G	probably damaging	Het
Nckap5	T	C	1: 125,842,752 (GRCm39)	K1752E	probably damaging	Het
Nek1	A	G	8: 61,507,770 (GRCm39)		probably null	Het
Ntng1	T	C	3: 110,051,202 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,644,176 (GRCm39)	V730A	probably benign	Het
Or2t44	T	A	11: 58,677,063 (GRCm39)	M1K	probably null	Het
Or51v14	T	A	7: 103,261,386 (GRCm39)	H58L	probably damaging	Het
Paqr6	C	T	3: 88,275,205 (GRCm39)	P213S	probably damaging	Het
Pign	A	T	1: 105,512,802 (GRCm39)	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,797,685 (GRCm39)	V139E	probably damaging	Het
Scgb1b24	G	T	7: 33,443,577 (GRCm39)	A79S	possibly damaging	Het
Slc25a28	T	C	19: 43,653,031 (GRCm39)	D210G	probably benign	Het
Slc38a3	A	T	9: 107,532,353 (GRCm39)	I393N	possibly damaging	Het
Slc41a2	T	C	10: 83,090,790 (GRCm39)	N465D	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Taf4	A	G	2: 179,565,780 (GRCm39)	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,743,690 (GRCm39)	C540F	probably benign	Het
Top1	A	T	2: 160,540,061 (GRCm39)	Y213F	probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Unc79	C	A	12: 103,108,991 (GRCm39)	A2005D	possibly damaging	Het
Upb1	T	C	10: 75,274,005 (GRCm39)	L344P	probably damaging	Het
Vmn1r72	T	A	7: 11,403,579 (GRCm39)	S290C	probably benign	Het
Vmn2r103	A	G	17: 20,013,866 (GRCm39)	I219M	possibly damaging	Het
Wapl	A	G	14: 34,451,152 (GRCm39)	T729A	probably damaging	Het
Washc5	C	T	15: 59,227,783 (GRCm39)	R393H	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
R5631:Thumpd1	UTSW	7	119,319,825 (GRCm39)	missense	probably damaging	1.00
R6123:Thumpd1	UTSW	7	119,316,232 (GRCm39)	missense	probably damaging	1.00
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'- CACTGTACTGGCGCTTTGAAG -3'
(R):5'- TGTCACTTTATGCGAGGACTGG -3'

Sequencing Primer
(F):5'- TTTGAAGCAACTGCCGCC -3'
(R):5'- GAGGACTGGGCGGCACC -3'

Posted On

2018-03-15