Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00952:Thumpd1'

27867

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00952

Quality Score

Status

Chromosome

Chromosomal Location

119314316-119320021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119316232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 239 (V239A)

Ref Sequence

ENSEMBL: ENSMUSP00000033236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033236] [ENSMUST00000047045]

AlphaFold

Q99J36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033236
AA Change: V239A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: V239A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047045

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	64	478	5.8e-83	PFAM
Pfam:AMP-binding_C	486	566	1.4e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209175

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	G	6: 40,941,733 (GRCm39)	I4S	probably benign	Het
Abca8b	A	G	11: 109,859,886 (GRCm39)		probably null	Het
Aftph	A	T	11: 20,677,483 (GRCm39)	V42E	probably damaging	Het
AI467606	A	G	7: 126,691,874 (GRCm39)	S150G	probably damaging	Het
Art4	T	C	6: 136,831,818 (GRCm39)	N108D	possibly damaging	Het
B9d1	G	A	11: 61,403,504 (GRCm39)	V167I	possibly damaging	Het
Ccdc47	A	T	11: 106,094,358 (GRCm39)		probably null	Het
Ccdc96	T	A	5: 36,642,424 (GRCm39)		probably benign	Het
Cfap44	A	G	16: 44,241,638 (GRCm39)	I670V	probably benign	Het
Col18a1	T	G	10: 76,905,813 (GRCm39)	K909Q	possibly damaging	Het
Col8a2	A	G	4: 126,203,584 (GRCm39)	Y59C	probably damaging	Het
Coro6	A	T	11: 77,359,291 (GRCm39)	D288V	probably damaging	Het
Cul4a	C	T	8: 13,196,562 (GRCm39)	L739F	probably damaging	Het
Dmxl2	C	T	9: 54,324,166 (GRCm39)	V1073I	probably damaging	Het
Dnah11	T	C	12: 118,160,386 (GRCm39)	T115A	possibly damaging	Het
Fdx2	A	G	9: 20,984,558 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,459,546 (GRCm39)	Q2549*	probably null	Het
Foxn2	T	C	17: 88,783,308 (GRCm39)	C188R	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ilf3	T	C	9: 21,307,347 (GRCm39)	L343P	probably damaging	Het
Itgb2l	C	T	16: 96,227,950 (GRCm39)	G518S	probably damaging	Het
Itpr2	T	A	6: 146,060,459 (GRCm39)	I2486F	probably damaging	Het
Kat2a	A	G	11: 100,596,977 (GRCm39)	V681A	probably damaging	Het
Kif17	A	G	4: 137,990,019 (GRCm39)	N69S	possibly damaging	Het
Kif26b	G	A	1: 178,759,770 (GRCm39)	D2106N	probably damaging	Het
Klf6	A	G	13: 5,911,680 (GRCm39)	T15A	probably benign	Het
Lyst	A	G	13: 13,852,692 (GRCm39)	T2231A	probably benign	Het
Mark4	T	C	7: 19,165,749 (GRCm39)	T515A	possibly damaging	Het
Mast3	A	T	8: 71,233,327 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,586,201 (GRCm39)	K722R	probably benign	Het
Ncf2	G	A	1: 152,711,857 (GRCm39)	E524K	probably benign	Het
Or56a3b	A	G	7: 104,771,614 (GRCm39)		probably null	Het
Or5p81	A	G	7: 108,267,445 (GRCm39)	N274S	possibly damaging	Het
Or5w12	A	T	2: 87,502,159 (GRCm39)	I184N	probably damaging	Het
Or8c17	A	T	9: 38,179,801 (GRCm39)		probably benign	Het
Plcg2	A	T	8: 118,333,956 (GRCm39)	M910L	probably benign	Het
Pramel14	T	C	4: 143,719,894 (GRCm39)	H157R	probably benign	Het
Rai1	A	T	11: 60,078,818 (GRCm39)	K961*	probably null	Het
Rsph14	T	C	10: 74,865,601 (GRCm39)	D112G	probably benign	Het
Sgo1	T	A	17: 53,994,275 (GRCm39)	D59V	probably damaging	Het
Slc22a29	A	T	19: 8,195,221 (GRCm39)	V138E	probably damaging	Het
Slc9a1	T	A	4: 133,143,693 (GRCm39)	V393D	probably damaging	Het
Smg6	A	G	11: 74,819,974 (GRCm39)	R82G	probably benign	Het
Sppl3	T	C	5: 115,212,935 (GRCm39)	S55P	probably benign	Het
Srsf12	A	C	4: 33,226,103 (GRCm39)	Q122P	possibly damaging	Het
Tas1r2	T	C	4: 139,382,563 (GRCm39)	M67T	probably benign	Het
Thnsl1	G	A	2: 21,216,767 (GRCm39)	V174I	possibly damaging	Het
Tnxb	T	G	17: 34,932,102 (GRCm39)	Y2212D	probably damaging	Het
Trim40	T	C	17: 37,193,289 (GRCm39)	*213W	probably null	Het
Ttc16	T	C	2: 32,660,259 (GRCm39)	D183G	probably damaging	Het

Other mutations in Thumpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17