Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01977:Thumpd3'

181719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thumpd3

Ensembl Gene

ENSMUSG00000030264

Gene Name

THUMP domain containing 3

Synonyms

Gtrosa26as

Accession Numbers

Essential gene?

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

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

113023292-113045239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113036927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 275 (N275K)

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: N275K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032398
Gene: ENSMUSG00000030264
AA Change: N275K

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: ENSMUST00000137396

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204786

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,841,986 (GRCm39)	S1040T	probably benign	Het
Adam25	T	C	8: 41,208,134 (GRCm39)	Y467H	probably benign	Het
Ank1	A	G	8: 23,605,449 (GRCm39)	I1061V	probably benign	Het
Anxa10	T	C	8: 62,529,348 (GRCm39)	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,297,128 (GRCm39)	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590 (GRCm39)		probably null	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,730,993 (GRCm39)	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,541,309 (GRCm39)	D256G	possibly damaging	Het
Cep350	C	T	1: 155,787,714 (GRCm39)	A1375T	probably benign	Het
Chrdl2	A	T	7: 99,671,263 (GRCm39)	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,279,341 (GRCm39)		probably benign	Het
Ddi1	C	A	9: 6,266,226 (GRCm39)	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,497,166 (GRCm39)		probably benign	Het
Fastkd1	C	T	2: 69,524,932 (GRCm39)	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,001,543 (GRCm39)	T755A	probably benign	Het
Fpgt	G	T	3: 154,793,655 (GRCm39)	T124K	probably damaging	Het
Gnl2	G	A	4: 124,941,405 (GRCm39)		probably null	Het
Got1	A	T	19: 43,504,284 (GRCm39)	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,463,070 (GRCm39)	H3N	probably benign	Het
Ikbke	C	T	1: 131,199,838 (GRCm39)		probably benign	Het
Il2rb	A	G	15: 78,365,897 (GRCm39)	S467P	probably benign	Het
Kcnma1	A	G	14: 23,580,367 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,876,973 (GRCm39)	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,804 (GRCm39)	I360N	probably damaging	Het
Nradd	G	A	9: 110,451,237 (GRCm39)	P44S	possibly damaging	Het
Or5m10	G	T	2: 85,717,711 (GRCm39)	C189F	probably damaging	Het
Or7h8	G	A	9: 20,123,755 (GRCm39)	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,770,537 (GRCm39)	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,555,344 (GRCm39)	T225A	possibly damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670 (GRCm39)	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,990,261 (GRCm39)	D70G	probably damaging	Het
Proc	T	A	18: 32,260,472 (GRCm39)	T218S	probably benign	Het
Proz	G	T	8: 13,116,913 (GRCm39)	G155V	probably damaging	Het
Rab11fip3	T	C	17: 26,286,977 (GRCm39)	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 184,999,220 (GRCm39)	R976*	probably null	Het
Shisa2	G	A	14: 59,867,435 (GRCm39)	C229Y	probably damaging	Het
Slc2a5	T	C	4: 150,226,675 (GRCm39)	V379A	probably damaging	Het
Slc31a2	A	T	4: 62,214,197 (GRCm39)	K47N	probably damaging	Het
Sult2a6	G	A	7: 13,987,411 (GRCm39)	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,662,381 (GRCm39)	Y302C	probably damaging	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tube1	G	A	10: 39,011,041 (GRCm39)		probably benign	Het
Umodl1	T	A	17: 31,192,742 (GRCm39)	Y290N	probably damaging	Het
Usp34	G	A	11: 23,402,661 (GRCm39)	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,229,935 (GRCm39)	D59V	probably benign	Het
Vps11	T	A	9: 44,267,516 (GRCm39)		probably benign	Het
Wdr19	T	C	5: 65,385,912 (GRCm39)	Y631H	probably benign	Het
Wdr62	G	A	7: 29,957,526 (GRCm39)	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,402,253 (GRCm39)	N184I	probably damaging	Het
Wnk4	T	A	11: 101,156,240 (GRCm39)	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,568,483 (GRCm39)	W661R	probably damaging	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
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
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

Posted On

2014-05-07