Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03357:Thumpd2'

420001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thumpd2

Ensembl Gene

ENSMUSG00000024246

Gene Name

THUMP domain containing 2

Synonyms

2810025A12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL03357

Quality Score

Status

Chromosome

Chromosomal Location

81333761-81372511 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 81351519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025093]

AlphaFold

Q9CZB3

Predicted Effect

probably benign
Transcript: ENSMUST00000025093

SMART Domains

Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246

Domain	Start	End	E-Value	Type
THUMP	175	266	4.08e-2	SMART
Pfam:UPF0020	272	425	3e-27	PFAM
Pfam:CMAS	284	429	3e-7	PFAM
Pfam:Ubie_methyltran	285	417	3e-10	PFAM
Pfam:MTS	289	417	2.1e-7	PFAM
Pfam:Methyltransf_31	296	441	7.8e-14	PFAM
Pfam:Methyltransf_11	303	406	1.9e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	T	19: 8,986,689 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,799,233 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,859,936 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,171,062 (GRCm39)	R47Q	probably benign	Het
Clmp	A	G	9: 40,597,623 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,987,740 (GRCm39)	G245R	probably damaging	Het
Cyp4a32	T	A	4: 115,468,798 (GRCm39)	S395T	probably benign	Het
Dcc	A	T	18: 71,460,625 (GRCm39)	I1155K	probably damaging	Het
Dpy19l4	G	A	4: 11,267,615 (GRCm39)	H442Y	probably damaging	Het
Dpys	T	C	15: 39,687,612 (GRCm39)	I395M	probably damaging	Het
Dpysl2	T	C	14: 67,050,736 (GRCm39)	K374E	probably damaging	Het
Fryl	A	T	5: 73,211,402 (GRCm39)	D660E	probably damaging	Het
Gabrb2	T	C	11: 42,482,771 (GRCm39)	F210L	probably damaging	Het
Gm4831	C	T	17: 37,422,879 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,243,632 (GRCm39)	M234K	probably benign	Het
Ints11	T	C	4: 155,956,581 (GRCm39)		probably benign	Het
Mex3a	T	A	3: 88,443,553 (GRCm39)	S210T	probably benign	Het
Or4k42	C	T	2: 111,320,289 (GRCm39)	M71I	probably benign	Het
Or4k52	G	A	2: 111,610,871 (GRCm39)	V69I	probably benign	Het
Pde1c	A	G	6: 56,157,078 (GRCm39)	V106A	probably damaging	Het
Pitpnm3	G	A	11: 71,961,716 (GRCm39)	Q284*	probably null	Het
Pkd1l2	A	G	8: 117,722,548 (GRCm39)	L2420P	probably damaging	Het
Prpf39	A	G	12: 65,108,211 (GRCm39)		probably benign	Het
Prss28	C	T	17: 25,528,669 (GRCm39)	T37I	probably benign	Het
Serpinb6c	A	T	13: 34,079,369 (GRCm39)	S108T	probably benign	Het
Snx7	T	C	3: 117,632,524 (GRCm39)	H131R	probably damaging	Het
Tex101	A	T	7: 24,367,758 (GRCm39)	I198K	probably damaging	Het
Thoc2l	T	G	5: 104,668,334 (GRCm39)	V952G	probably damaging	Het
Ubqln3	A	C	7: 103,791,763 (GRCm39)	I109S	probably benign	Het
Zfp212	A	T	6: 47,907,771 (GRCm39)	N250I	probably benign	Het

Other mutations in Thumpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01750:Thumpd2	APN	17	81,361,815 (GRCm39)	missense	probably benign	0.00
IGL02409:Thumpd2	APN	17	81,340,117 (GRCm39)	missense	probably damaging	1.00
IGL02546:Thumpd2	APN	17	81,361,884 (GRCm39)	missense	probably benign	0.16
R1295:Thumpd2	UTSW	17	81,363,317 (GRCm39)	missense	probably damaging	1.00
R2030:Thumpd2	UTSW	17	81,372,387 (GRCm39)	missense	probably damaging	1.00
R2898:Thumpd2	UTSW	17	81,351,557 (GRCm39)	nonsense	probably null
R4805:Thumpd2	UTSW	17	81,334,130 (GRCm39)	missense	probably damaging	0.98
R4861:Thumpd2	UTSW	17	81,334,230 (GRCm39)	missense	probably benign	0.03
R4861:Thumpd2	UTSW	17	81,334,230 (GRCm39)	missense	probably benign	0.03
R5328:Thumpd2	UTSW	17	81,351,591 (GRCm39)	missense	possibly damaging	0.64
R5359:Thumpd2	UTSW	17	81,334,206 (GRCm39)	missense	probably benign	0.16
R6207:Thumpd2	UTSW	17	81,363,266 (GRCm39)	missense	probably damaging	1.00
R6218:Thumpd2	UTSW	17	81,360,342 (GRCm39)	missense	probably damaging	1.00
R6484:Thumpd2	UTSW	17	81,361,617 (GRCm39)	missense	probably benign	0.01
R6853:Thumpd2	UTSW	17	81,372,459 (GRCm39)	missense	possibly damaging	0.75
R6855:Thumpd2	UTSW	17	81,351,599 (GRCm39)	missense	probably damaging	1.00
R6917:Thumpd2	UTSW	17	81,351,543 (GRCm39)	missense	probably benign	0.00
R7018:Thumpd2	UTSW	17	81,363,326 (GRCm39)	nonsense	probably null
R7916:Thumpd2	UTSW	17	81,334,116 (GRCm39)	missense	probably benign	0.05
R7957:Thumpd2	UTSW	17	81,334,157 (GRCm39)	missense	probably benign	0.23
R8422:Thumpd2	UTSW	17	81,334,373 (GRCm39)	missense	probably damaging	1.00
R9248:Thumpd2	UTSW	17	81,334,040 (GRCm39)	missense	possibly damaging	0.83
R9727:Thumpd2	UTSW	17	81,345,585 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02