Mutagenetix > Incidental Mutation

Incidental Mutation 'R7957:Thumpd2'

649920

Institutional Source

Beutler Lab

Gene Symbol

Thumpd2

Ensembl Gene

ENSMUSG00000024246

Gene Name

THUMP domain containing 2

Synonyms

MMRRC Submission

046001-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81026327-81065085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81026728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 477 (E477G)

Ref Sequence

ENSEMBL: ENSMUSP00000025093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025093]

AlphaFold

Q9CZB3

Predicted Effect

probably benign
Transcript: ENSMUST00000025093
AA Change: E477G

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246
AA Change: E477G

Domain	Start	End	E-Value	Type
THUMP	175	266	4.08e-2	SMART
Pfam:UPF0020	272	425	3e-27	PFAM
Pfam:CMAS	284	429	3e-7	PFAM
Pfam:Ubie_methyltran	285	417	3e-10	PFAM
Pfam:MTS	289	417	2.1e-7	PFAM
Pfam:Methyltransf_31	296	441	7.8e-14	PFAM
Pfam:Methyltransf_11	303	406	1.9e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,091,613 (GRCm38)	M1T	probably null	Het
Abhd2	T	A	7: 79,325,446 (GRCm38)	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,212 (GRCm38)	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,390,924 (GRCm38)	T438A	probably benign	Het
Cebpa	A	G	7: 35,120,442 (GRCm38)	I342V	possibly damaging	Het
Chd9	T	C	8: 91,051,698 (GRCm38)	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,658,222 (GRCm38)	P577T	probably benign	Het
Col17a1	T	C	19: 47,661,117 (GRCm38)	D755G	probably damaging	Het
Col5a3	A	G	9: 20,774,051 (GRCm38)	V1443A	unknown	Het
Crygs	C	T	16: 22,805,332 (GRCm38)	R175H	probably damaging	Het
Fam193a	A	G	5: 34,462,086 (GRCm38)	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,491,985 (GRCm38)	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410 (GRCm38)	T149A	probably damaging	Het
Gm15922	C	G	7: 3,737,320 (GRCm38)	A301P	probably damaging	Het
Gm3667	T	C	14: 6,872,332 (GRCm38)	N156D	probably benign	Het
Hpcal1	T	A	12: 17,791,170 (GRCm38)	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,487,470 (GRCm38)	E342*	probably null	Het
Ints13	A	G	6: 146,550,766 (GRCm38)	S652P	probably damaging	Het
Kansl2	C	A	15: 98,524,618 (GRCm38)	E356D	probably benign	Het
Klhl6	T	C	16: 19,949,451 (GRCm38)	E448G	probably null	Het
Mmp14	A	G	14: 54,436,250 (GRCm38)	I124V	probably benign	Het
Morc2b	A	T	17: 33,135,773 (GRCm38)	D1008E	probably benign	Het
Muc16	A	C	9: 18,643,471 (GRCm38)	V3842G	unknown	Het
Myo9b	A	T	8: 71,354,761 (GRCm38)	I1614F	probably benign	Het
Nipa1	A	T	7: 55,979,799 (GRCm38)	C189S	probably damaging	Het
Nov	G	T	15: 54,746,338 (GRCm38)	S78I	possibly damaging	Het
Ntn4	T	C	10: 93,644,473 (GRCm38)		probably benign	Het
Olfr1274-ps	A	T	2: 90,401,051 (GRCm38)	Y130F	probably damaging	Het
Olfr146	T	G	9: 39,019,053 (GRCm38)	I163L	probably benign	Het
Olfr329-ps	A	G	11: 58,542,798 (GRCm38)	L239P	probably damaging	Het
Olfr358	A	G	2: 37,004,960 (GRCm38)	I218T	probably benign	Het
Olfr399	A	C	11: 74,054,156 (GRCm38)	L201R	probably damaging	Het
Pank1	T	A	19: 34,813,696 (GRCm38)	H528L	probably damaging	Het
Pappa2	A	T	1: 158,761,561 (GRCm38)	L1698*	probably null	Het
Park7	A	G	4: 150,903,884 (GRCm38)	S85P	probably damaging	Het
Pik3r4	A	G	9: 105,687,209 (GRCm38)	D1334G	probably damaging	Het
Rapgef2	T	C	3: 79,214,969 (GRCm38)	E30G	probably benign	Het
Rhbdf1	A	G	11: 32,210,523 (GRCm38)	F676L	probably damaging	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,579,906 (GRCm38)		probably benign	Het
Scd4	G	T	19: 44,341,248 (GRCm38)	M219I	probably benign	Het
Slfn5	T	A	11: 82,956,787 (GRCm38)	I166N	probably benign	Het
Smim22	A	T	16: 5,008,225 (GRCm38)	D85V	probably damaging	Het
Socs2	T	C	10: 95,414,950 (GRCm38)	E7G	probably benign	Het
Tlr12	C	T	4: 128,616,690 (GRCm38)	G589D	probably benign	Het
Ttn	A	T	2: 76,764,855 (GRCm38)	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,708,864 (GRCm38)		probably null	Het
Ugt2a3	T	A	5: 87,327,191 (GRCm38)	D398V	probably damaging	Het
Vmn2r88	A	T	14: 51,413,132 (GRCm38)	M101L		Het
Vmn2r93	A	T	17: 18,325,692 (GRCm38)	R609*	probably null	Het
Zfp473	C	T	7: 44,732,492 (GRCm38)	E806K	probably damaging	Het
Zfp93	T	C	7: 24,275,574 (GRCm38)	L328P	probably damaging	Het

Other mutations in Thumpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01750:Thumpd2	APN	17	81,054,386 (GRCm38)	missense	probably benign	0.00
IGL02409:Thumpd2	APN	17	81,032,688 (GRCm38)	missense	probably damaging	1.00
IGL02546:Thumpd2	APN	17	81,054,455 (GRCm38)	missense	probably benign	0.16
IGL03357:Thumpd2	APN	17	81,044,090 (GRCm38)	splice site	probably benign
R1295:Thumpd2	UTSW	17	81,055,888 (GRCm38)	missense	probably damaging	1.00
R2030:Thumpd2	UTSW	17	81,064,958 (GRCm38)	missense	probably damaging	1.00
R2898:Thumpd2	UTSW	17	81,044,128 (GRCm38)	nonsense	probably null
R4805:Thumpd2	UTSW	17	81,026,701 (GRCm38)	missense	probably damaging	0.98
R4861:Thumpd2	UTSW	17	81,026,801 (GRCm38)	missense	probably benign	0.03
R4861:Thumpd2	UTSW	17	81,026,801 (GRCm38)	missense	probably benign	0.03
R5328:Thumpd2	UTSW	17	81,044,162 (GRCm38)	missense	possibly damaging	0.64
R5359:Thumpd2	UTSW	17	81,026,777 (GRCm38)	missense	probably benign	0.16
R6207:Thumpd2	UTSW	17	81,055,837 (GRCm38)	missense	probably damaging	1.00
R6218:Thumpd2	UTSW	17	81,052,913 (GRCm38)	missense	probably damaging	1.00
R6484:Thumpd2	UTSW	17	81,054,188 (GRCm38)	missense	probably benign	0.01
R6853:Thumpd2	UTSW	17	81,065,030 (GRCm38)	missense	possibly damaging	0.75
R6855:Thumpd2	UTSW	17	81,044,170 (GRCm38)	missense	probably damaging	1.00
R6917:Thumpd2	UTSW	17	81,044,114 (GRCm38)	missense	probably benign	0.00
R7018:Thumpd2	UTSW	17	81,055,897 (GRCm38)	nonsense	probably null
R7916:Thumpd2	UTSW	17	81,026,687 (GRCm38)	missense	probably benign	0.05
R8422:Thumpd2	UTSW	17	81,026,944 (GRCm38)	missense	probably damaging	1.00
R9248:Thumpd2	UTSW	17	81,026,611 (GRCm38)	missense	possibly damaging	0.83
R9727:Thumpd2	UTSW	17	81,038,156 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGCTGTGTTCTTGGAGC -3'
(R):5'- GTCTTGTTGCTCAGTGAAGATC -3'

Sequencing Primer
(F):5'- CTCCGGGGCTATAAGGAATCCTG -3'
(R):5'- ACCGGCATCTTACAGACTGTG -3'

Posted On

2020-09-15