Mutagenetix > Incidental Mutation

Incidental Mutation 'R0386:Thumpd3'

31286

Institutional Source

Beutler Lab

Gene Symbol

Thumpd3

Ensembl Gene

ENSMUSG00000030264

Gene Name

THUMP domain containing 3

Synonyms

Gtrosa26as

MMRRC Submission

038592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R0386 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113023292-113045239 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 113042621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032398 (fasta)

Gene Model

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

AlphaFold

P97770

Predicted Effect

probably null
Transcript: ENSMUST00000032398

SMART Domains

Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264

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: ENSMUST00000124246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204786

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,044,308 (GRCm39)	V194A	probably damaging	Het
Adamts13	G	A	2: 26,876,691 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,988,508 (GRCm39)	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,906,335 (GRCm39)	C1409S	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,338,687 (GRCm39)	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,727 (GRCm39)	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,060,107 (GRCm39)	L2774F	probably damaging	Het
Dst	A	T	1: 34,256,917 (GRCm39)	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Efcab5	A	T	11: 77,063,204 (GRCm39)	M96K	probably benign	Het
Elavl4	A	G	4: 110,063,902 (GRCm39)		probably benign	Het
Flt4	G	A	11: 49,535,213 (GRCm39)	A1214T	probably benign	Het
Fn1	G	T	1: 71,634,945 (GRCm39)	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,222,629 (GRCm39)	S391R	possibly damaging	Het
Gabrb1	A	T	5: 72,266,150 (GRCm39)	Y269F	probably damaging	Het
Ghitm	A	G	14: 36,847,868 (GRCm39)	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,851,928 (GRCm39)		noncoding transcript	Het
Gm16380	T	A	9: 53,791,727 (GRCm39)		noncoding transcript	Het
Gm9869	A	T	9: 60,745,344 (GRCm39)		probably benign	Het
Gm9936	G	A	5: 114,995,192 (GRCm39)	Q142*	probably null	Het
Hmbs	T	C	9: 44,248,305 (GRCm39)	Y260C	probably benign	Het
Hoxc5	T	A	15: 102,923,784 (GRCm39)	C193*	probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Lce1j	T	C	3: 92,696,695 (GRCm39)	K28E	unknown	Het
Lpgat1	C	T	1: 191,451,460 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,882,799 (GRCm39)		probably benign	Het
Megf11	A	G	9: 64,547,360 (GRCm39)	N235D	probably damaging	Het
Mst1r	T	A	9: 107,794,003 (GRCm39)		probably null	Het
Nr2c2ap	A	G	8: 70,584,237 (GRCm39)	D9G	probably benign	Het
Obscn	T	C	11: 59,027,165 (GRCm39)	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,367,950 (GRCm39)	L188*	probably null	Het
Oma1	A	T	4: 103,182,398 (GRCm39)		probably benign	Het
Or10aa3	A	T	1: 173,877,965 (GRCm39)	T9S	probably benign	Het
Or5m11	A	G	2: 85,782,217 (GRCm39)	E270G	probably damaging	Het
Pcm1	T	C	8: 41,769,060 (GRCm39)	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,639,836 (GRCm39)	M1T	probably null	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm10	C	A	9: 31,227,596 (GRCm39)	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,754,852 (GRCm39)	H1193Q	probably benign	Het
Sall1	A	G	8: 89,759,232 (GRCm39)	S291P	probably damaging	Het
Sdk2	T	C	11: 113,784,290 (GRCm39)	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,117,361 (GRCm39)	Y170F	probably benign	Het
Sema4a	C	T	3: 88,344,107 (GRCm39)	V715I	possibly damaging	Het
Smgc	G	A	15: 91,738,841 (GRCm39)	A500T	probably benign	Het
Spef2	A	G	15: 9,584,148 (GRCm39)	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,620,437 (GRCm39)		probably benign	Het
Tbc1d23	G	A	16: 57,009,636 (GRCm39)	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,420,159 (GRCm39)	L10P	probably damaging	Het
Trp53bp1	G	T	2: 121,035,424 (GRCm39)	T1609K	probably damaging	Het
Tut1	A	G	19: 8,932,919 (GRCm39)	N84S	probably benign	Het
Urb1	C	T	16: 90,593,287 (GRCm39)	G282R	probably damaging	Het
Usp19	A	T	9: 108,376,910 (GRCm39)	D1160V	probably damaging	Het
Usp9y	A	G	Y: 1,316,933 (GRCm39)	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,986,242 (GRCm39)	Y386*	probably null	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
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
R6406:Thumpd3	UTSW	6	113,032,924 (GRCm39)	missense	probably damaging	0.98
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'- GCACGGATTGCCATGTTACTGAGAG -3'
(R):5'- CAGCCTTCAGAAGCAAAGCAATTGG -3'

Sequencing Primer
(F):5'- TGAGAGTTGGCCATAGTGAC -3'
(R):5'- ggctgtcctggaactcac -3'

Posted On

2013-04-24