Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Thumpd3'

575072

Institutional Source

Beutler Lab

Gene Symbol

Thumpd3

Ensembl Gene

ENSMUSG00000030264

Gene Name

THUMP domain containing 3

Synonyms

Gtrosa26as

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113046225-113068273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113056111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 270 (V270A)

Ref Sequence

ENSEMBL: ENSMUSP00000032398 (fasta)

Gene Model

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

AlphaFold

P97770

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032398
AA Change: V270A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: V270A

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

probably benign
Transcript: ENSMUST00000155378

SMART Domains

Protein: ENSMUSP00000120509
Gene: ENSMUSG00000030264

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936		probably null	Het
Abcc12	C	A	8: 86,560,850	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917		probably null	Het
Adam28	C	T	14: 68,626,947	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195		probably null	Het
Gm11639	T	G	11: 104,999,723	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gm5861	T	A	5: 11,183,149		probably null	Het
Gm9513	T	C	9: 36,475,684	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985	F91L		Het
Ints1	C	T	5: 139,764,260	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063	M1K	probably null	Het
Jrk	C	T	15: 74,707,199	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855		probably null	Het
Nphp4	T	A	4: 152,554,717	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192		probably null	Het
Rhbdl2	G	A	4: 123,829,642	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Sema3a	T	G	5: 13,516,263	Y171*	probably null	Het
Set	A	G	2: 30,066,885	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slc6a20b	A	G	9: 123,604,948	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664	N195S	probably damaging	Het
Urgcp	T	A	11: 5,718,116	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131	M1078R		Het
Wdr63	A	G	3: 146,097,145	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444		probably null	Het

Other mutations in Thumpd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Thumpd3	APN	6	113047661	missense	possibly damaging	0.94
IGL01113:Thumpd3	APN	6	113060060	missense	probably benign	0.36
IGL01525:Thumpd3	APN	6	113047636	missense	probably damaging	1.00
IGL01560:Thumpd3	APN	6	113063159	missense	possibly damaging	0.88
IGL01734:Thumpd3	APN	6	113066845	missense	probably damaging	1.00
IGL01814:Thumpd3	APN	6	113063151	missense	possibly damaging	0.64
IGL01901:Thumpd3	APN	6	113059971	missense	probably benign	0.09
IGL01977:Thumpd3	APN	6	113059966	missense	possibly damaging	0.96
IGL02697:Thumpd3	APN	6	113067295	missense	probably benign	0.03
IGL02805:Thumpd3	APN	6	113066797	missense	probably damaging	1.00
PIT4431001:Thumpd3	UTSW	6	113059978	missense	probably benign	0.01
R0139:Thumpd3	UTSW	6	113067801	missense	probably benign	0.00
R0386:Thumpd3	UTSW	6	113065660	critical splice donor site	probably null
R1975:Thumpd3	UTSW	6	113055877	missense	possibly damaging	0.92
R2125:Thumpd3	UTSW	6	113066788	missense	probably benign	0.02
R3709:Thumpd3	UTSW	6	113055691	missense	possibly damaging	0.65
R5439:Thumpd3	UTSW	6	113066864	splice site	silent
R6074:Thumpd3	UTSW	6	113060010	missense	possibly damaging	0.70
R6406:Thumpd3	UTSW	6	113055963	missense	probably damaging	0.98
R7464:Thumpd3	UTSW	6	113055769	missense	probably benign	0.00
R7465:Thumpd3	UTSW	6	113047631	missense	probably damaging	1.00
R7779:Thumpd3	UTSW	6	113059989	missense	probably damaging	0.98
R8319:Thumpd3	UTSW	6	113063146	nonsense	probably null
R9268:Thumpd3	UTSW	6	113066858	missense	probably damaging	1.00
R9695:Thumpd3	UTSW	6	113047661	missense	possibly damaging	0.93
RF010:Thumpd3	UTSW	6	113056045	missense	probably damaging	1.00
Z1088:Thumpd3	UTSW	6	113056030	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTGCAAAGATGAAACTGGTCAAAGC -3'
(R):5'- TCAATGGCCCTTGTGCTAGC -3'

Sequencing Primer
(F):5'- GCTTAAGAGAAGAAACTGAACCAC -3'
(R):5'- AGTCTCTCACTGAACCTGGG -3'

Posted On

2019-10-07