Mutagenetix > Incidental Mutation

Incidental Mutation 'F6893:Thumpd1'

198

Institutional Source

Beutler Lab

Gene Symbol

Thumpd1

Ensembl Gene

ENSMUSG00000030942

Gene Name

THUMP domain containing 1

Synonyms

6330575P11Rik

Accession Numbers

Essential gene?

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

Stock #

F6893 (G3) of strain busy

Quality Score

Status

Validated

Chromosome

Chromosomal Location

119314316-119320021 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119319799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 56 (K56*)

Ref Sequence

ENSEMBL: ENSMUSP00000033236 (fasta)

Gene Model

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

AlphaFold

Q99J36

Predicted Effect

probably null
Transcript: ENSMUST00000033236
AA Change: K56*

SMART Domains

Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: K56*

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

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 88.7%
3x: 74.0%

Validation Efficiency

88% (165/188)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,924,261 (GRCm39)	V1638M	probably damaging	Het
Agrn	C	T	4: 156,258,636 (GRCm39)	R972Q	probably benign	Het
Anxa3	T	C	5: 96,972,853 (GRCm39)		probably benign	Het
Bpifa6	G	T	2: 153,829,078 (GRCm39)	D202Y	probably damaging	Het
Ccdc15	G	A	9: 37,226,936 (GRCm39)	T346I	probably damaging	Homo
Celsr3	G	A	9: 108,712,266 (GRCm39)	R1731H	probably benign	Het
Ces4a	A	G	8: 105,873,859 (GRCm39)	R443G	possibly damaging	Het
Chd2	T	C	7: 73,157,620 (GRCm39)	Q175R	possibly damaging	Het
Dpyd	T	A	3: 118,597,783 (GRCm39)		probably null	Het
Dscam	G	T	16: 96,857,660 (GRCm39)	H117N	possibly damaging	Het
F13a1	A	G	13: 37,155,999 (GRCm39)	Y205H	probably damaging	Het
Fat3	A	C	9: 15,918,085 (GRCm39)	L1446R	probably damaging	Homo
Golga4	T	C	9: 118,382,525 (GRCm39)	L515S	probably damaging	Het
Hoxb1	A	T	11: 96,256,728 (GRCm39)	T26S	probably benign	Het
Igsf10	T	G	3: 59,238,481 (GRCm39)	T567P	probably damaging	Het
Lamb2	T	C	9: 108,359,755 (GRCm39)	V365A	probably benign	Het
Mepe	A	G	5: 104,485,242 (GRCm39)	I127M	possibly damaging	Het
Mpi	A	T	9: 57,453,832 (GRCm39)	M230K	probably benign	Homo
Myh4	A	G	11: 67,146,283 (GRCm39)	D1447G	probably null	Homo
Or1f19	A	G	16: 3,411,027 (GRCm39)	I256V	possibly damaging	Het
Or1j4	A	G	2: 36,740,819 (GRCm39)	T254A	probably benign	Het
Panx2	T	C	15: 88,952,213 (GRCm39)	Y227H	probably damaging	Homo
Pdzd7	A	G	19: 45,025,173 (GRCm39)	W441R	probably damaging	Het
Poldip2	A	G	11: 78,410,020 (GRCm39)	I267M	probably damaging	Homo
Pros1	T	A	16: 62,745,002 (GRCm39)	V539E	probably damaging	Het
Sacs	T	C	14: 61,450,425 (GRCm39)	M4157T	probably benign	Het
Slc45a3	A	G	1: 131,909,075 (GRCm39)	E424G	probably benign	Homo
Slc9a1	A	G	4: 133,149,457 (GRCm39)	E761G	probably benign	Homo
Stab2	G	A	10: 86,691,035 (GRCm39)	P2178L	probably damaging	Het
Syt4	C	T	18: 31,577,274 (GRCm39)	V27I	possibly damaging	Homo
Tpr	A	G	1: 150,269,313 (GRCm39)	K19E	possibly damaging	Homo
Ttll10	A	G	4: 156,132,775 (GRCm39)	I74T	probably benign	Het
Txnrd1	C	T	10: 82,702,823 (GRCm39)	Q95*	probably null	Homo
Zc3h7b	A	G	15: 81,662,872 (GRCm39)	E421G	possibly damaging	Homo
Zc3hc1	G	T	6: 30,387,525 (GRCm39)	D51E	probably benign	Homo

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
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
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

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at position 190 of the Thumpd1 transcript in exon 1 of 4 total exons. The mutated nucleotide introduces a premature stop codon at lysine 56 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Thumpd1 gene encodes a 350 amino acid protein that contains one RNA-binding THUMP domain at amino acids 147-254 (Uniprot Q99J36). The THUMP domain probably functions by delivering a variety of RNA modification enzymes to their targets.

Posted On

2010-05-04