Mutagenetix > Incidental Mutation

Incidental Mutation 'R6406:Thumpd3'

516300

Institutional Source

Beutler Lab

Gene Symbol

Thumpd3

Ensembl Gene

ENSMUSG00000030264

Gene Name

THUMP domain containing 3

Synonyms

Gtrosa26as

MMRRC Submission

044551-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R6406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113023292-113045239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113032924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 221 (E221K)

Ref Sequence

ENSEMBL: ENSMUSP00000120509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032398] [ENSMUST00000155378]

AlphaFold

P97770

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032398
AA Change: E221K

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: E221K

Domain	Start	End	E-Value	Type
low complexity region	142	151	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
THUMP	190	287	4.75e-12	SMART
Pfam:UPF0020	294	480	1.2e-57	PFAM
Pfam:Methyltransf_26	322	449	6.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137396

Predicted Effect

probably damaging
Transcript: ENSMUST00000155378
AA Change: E221K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120509
Gene: ENSMUSG00000030264
AA Change: E221K

Domain	Start	End	E-Value	Type
low complexity region	142	151	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
Blast:THUMP	190	222	2e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204786

Meta Mutation Damage Score

0.1488

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,817,865 (GRCm39)	P29L	probably benign	Het
Acsm1	A	G	7: 119,261,484 (GRCm39)	N567S	probably benign	Het
Ahi1	T	G	10: 20,852,948 (GRCm39)	N505K	probably damaging	Het
Ank2	T	A	3: 126,825,874 (GRCm39)	D356V	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifb6	C	A	2: 153,746,457 (GRCm39)	T117K	possibly damaging	Het
C2cd6	T	C	1: 59,097,835 (GRCm39)	E418G	possibly damaging	Het
Cbx1	A	T	11: 96,692,364 (GRCm39)	K84*	probably null	Het
Cr2	A	G	1: 194,852,079 (GRCm39)	L90P	probably damaging	Het
Dclk1	A	G	3: 55,387,827 (GRCm39)	D91G	probably damaging	Het
Dock1	C	A	7: 134,747,215 (GRCm39)	Q1509K	probably benign	Het
Fzd1	T	G	5: 4,806,089 (GRCm39)	T498P	probably damaging	Het
Galnt12	A	G	4: 47,122,534 (GRCm39)	N271S	probably benign	Het
Gm12888	A	G	4: 121,176,654 (GRCm39)	I49T	possibly damaging	Het
Gria4	A	T	9: 4,427,077 (GRCm39)	W788R	probably damaging	Het
Ilf3	C	T	9: 21,307,540 (GRCm39)	A379V	probably damaging	Het
Islr2	A	G	9: 58,107,263 (GRCm39)	V43A	probably benign	Het
Jag1	T	A	2: 136,929,563 (GRCm39)	N782I	probably damaging	Het
Klhl8	T	A	5: 104,010,981 (GRCm39)	I539F	possibly damaging	Het
Lama5	A	T	2: 179,839,257 (GRCm39)	C750*	probably null	Het
Lrrc37a	T	A	11: 103,388,361 (GRCm39)	T2355S	unknown	Het
Lrrc8a	A	G	2: 30,147,103 (GRCm39)	H639R	possibly damaging	Het
Map1a	A	T	2: 121,131,224 (GRCm39)	D442V	probably damaging	Het
Mier3	T	C	13: 111,846,343 (GRCm39)		probably null	Het
Msantd1	C	A	5: 35,080,665 (GRCm39)		probably null	Het
Ncapd2	C	A	6: 125,150,841 (GRCm39)	A785S	probably benign	Het
Ncbp2	CTCGTCTGG	C	16: 31,775,159 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Ndst4	T	C	3: 125,232,150 (GRCm39)	S240P	probably benign	Het
Nek9	T	C	12: 85,385,946 (GRCm39)	D17G	probably damaging	Het
Nkx6-1	C	T	5: 101,811,677 (GRCm39)	A142T	unknown	Het
Nt5dc1	T	C	10: 34,200,404 (GRCm39)	H205R	probably benign	Het
Or5b94	T	C	19: 12,652,184 (GRCm39)	I205T	probably benign	Het
Or9g3	T	A	2: 85,590,651 (GRCm39)	Q23L	possibly damaging	Het
Pafah1b1	A	G	11: 74,573,098 (GRCm39)	M322T	probably benign	Het
Parp2	A	G	14: 51,056,934 (GRCm39)	N353D	probably benign	Het
Pdcd6ip	T	C	9: 113,503,412 (GRCm39)	N452S	possibly damaging	Het
Pkd1l2	A	G	8: 117,762,586 (GRCm39)	V1397A	probably damaging	Het
Prkdc	T	A	16: 15,535,665 (GRCm39)	L1675Q	probably damaging	Het
Ptprt	T	C	2: 161,395,703 (GRCm39)	I1157V	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Sele	G	T	1: 163,878,312 (GRCm39)	C217F	probably damaging	Het
Spats1	T	A	17: 45,768,191 (GRCm39)	H125L	probably damaging	Het
Stard3	T	C	11: 98,269,595 (GRCm39)	V330A	probably benign	Het
Synj2	T	A	17: 6,069,846 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,977,963 (GRCm39)	F301L	probably damaging	Het
Trim61	T	C	8: 65,466,377 (GRCm39)	T295A	possibly damaging	Het
Trp53bp1	T	C	2: 121,101,093 (GRCm39)	Q35R	probably damaging	Het
Tsnaxip1	C	T	8: 106,570,615 (GRCm39)	T578I	probably benign	Het

Other mutations in Thumpd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Thumpd3	APN	6	113,024,622 (GRCm39)	missense	possibly damaging	0.94
IGL01113:Thumpd3	APN	6	113,037,021 (GRCm39)	missense	probably benign	0.36
IGL01525:Thumpd3	APN	6	113,024,597 (GRCm39)	missense	probably damaging	1.00
IGL01560:Thumpd3	APN	6	113,040,120 (GRCm39)	missense	possibly damaging	0.88
IGL01734:Thumpd3	APN	6	113,043,806 (GRCm39)	missense	probably damaging	1.00
IGL01814:Thumpd3	APN	6	113,040,112 (GRCm39)	missense	possibly damaging	0.64
IGL01901:Thumpd3	APN	6	113,036,932 (GRCm39)	missense	probably benign	0.09
IGL01977:Thumpd3	APN	6	113,036,927 (GRCm39)	missense	possibly damaging	0.96
IGL02697:Thumpd3	APN	6	113,044,256 (GRCm39)	missense	probably benign	0.03
IGL02805:Thumpd3	APN	6	113,043,758 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Thumpd3	UTSW	6	113,036,939 (GRCm39)	missense	probably benign	0.01
R0139:Thumpd3	UTSW	6	113,044,762 (GRCm39)	missense	probably benign	0.00
R0386:Thumpd3	UTSW	6	113,042,621 (GRCm39)	critical splice donor site	probably null
R1975:Thumpd3	UTSW	6	113,032,838 (GRCm39)	missense	possibly damaging	0.92
R2125:Thumpd3	UTSW	6	113,043,749 (GRCm39)	missense	probably benign	0.02
R3709:Thumpd3	UTSW	6	113,032,652 (GRCm39)	missense	possibly damaging	0.65
R5439:Thumpd3	UTSW	6	113,043,825 (GRCm39)	splice site	silent
R6074:Thumpd3	UTSW	6	113,036,971 (GRCm39)	missense	possibly damaging	0.70
R7411:Thumpd3	UTSW	6	113,033,072 (GRCm39)	missense	possibly damaging	0.92
R7464:Thumpd3	UTSW	6	113,032,730 (GRCm39)	missense	probably benign	0.00
R7465:Thumpd3	UTSW	6	113,024,592 (GRCm39)	missense	probably damaging	1.00
R7779:Thumpd3	UTSW	6	113,036,950 (GRCm39)	missense	probably damaging	0.98
R8319:Thumpd3	UTSW	6	113,040,107 (GRCm39)	nonsense	probably null
R9268:Thumpd3	UTSW	6	113,043,819 (GRCm39)	missense	probably damaging	1.00
R9695:Thumpd3	UTSW	6	113,024,622 (GRCm39)	missense	possibly damaging	0.93
RF010:Thumpd3	UTSW	6	113,033,006 (GRCm39)	missense	probably damaging	1.00
Z1088:Thumpd3	UTSW	6	113,032,991 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGACTGTGGACAAGGAGAC -3'
(R):5'- TTCAATGGCCCTTGTGCTAG -3'

Sequencing Primer
(F):5'- CTGTGGACAAGGAGACAAAGC -3'
(R):5'- TCAAGTACTCAAGCTTGCTCAG -3'

Posted On

2018-05-04