Mutagenetix > Incidental Mutation

Incidental Mutation 'R4805:Thumpd2'

370653

Institutional Source

Beutler Lab

Gene Symbol

Thumpd2

Ensembl Gene

ENSMUSG00000024246

Gene Name

THUMP domain containing 2

Synonyms

2810025A12Rik

MMRRC Submission

041999-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81333761-81372511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81334130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 486 (T486I)

Ref Sequence

ENSEMBL: ENSMUSP00000025093 (fasta)

Gene Model

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

AlphaFold

Q9CZB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025093
AA Change: T486I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246
AA Change: T486I

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

Meta Mutation Damage Score

0.1503

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,950,628 (GRCm39)	Y1508*	probably null	Het
4931414P19Rik	T	C	14: 54,832,911 (GRCm39)	E88G	probably benign	Het
Acaa1b	A	G	9: 118,986,014 (GRCm39)	S17P	probably benign	Het
Arhgef7	G	A	8: 11,881,552 (GRCm39)	E565K	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bpnt1	T	A	1: 185,077,504 (GRCm39)		probably null	Het
Ccnt1	C	T	15: 98,442,189 (GRCm39)	V360I	probably benign	Het
Chd4	T	C	6: 125,105,908 (GRCm39)	S1829P	possibly damaging	Het
Dennd1b	A	T	1: 138,981,122 (GRCm39)	N112I	probably damaging	Het
Fat2	A	T	11: 55,174,805 (GRCm39)	D1969E	probably benign	Het
Flywch1	A	C	17: 23,979,591 (GRCm39)	D394E	probably benign	Het
Gal3st4	T	A	5: 138,263,733 (GRCm39)		probably null	Het
Gm14403	T	C	2: 177,200,492 (GRCm39)	L146P	probably damaging	Het
Gm5283	G	T	3: 17,285,123 (GRCm39)		noncoding transcript	Het
Gpr161	T	A	1: 165,134,029 (GRCm39)	L97Q	probably damaging	Het
Gstm2	A	T	3: 107,892,411 (GRCm39)	M105K	possibly damaging	Het
Hecw2	A	G	1: 53,880,018 (GRCm39)	Y1264H	probably damaging	Het
Ifi206	T	A	1: 173,308,952 (GRCm39)	Q348L	possibly damaging	Het
Ighv1-83	A	T	12: 115,927,489 (GRCm39)	M87K	possibly damaging	Het
Ighv2-7	A	T	12: 113,771,154 (GRCm39)	S44T	probably damaging	Het
Ipo7	T	A	7: 109,650,691 (GRCm39)	N884K	probably benign	Het
Itga2b	T	C	11: 102,358,692 (GRCm39)	N75S	probably benign	Het
Krt20	A	G	11: 99,319,811 (GRCm39)	V431A	unknown	Het
Krt24	A	T	11: 99,174,452 (GRCm39)	I205N	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc31	A	T	3: 30,745,446 (GRCm39)	L67*	probably null	Het
Lrrc37a	A	G	11: 103,395,135 (GRCm39)	F97L	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mgat4d	T	G	8: 84,084,787 (GRCm39)		probably null	Het
Mrgprb3	C	T	7: 48,293,054 (GRCm39)	V166I	probably benign	Het
Myh11	T	A	16: 14,052,329 (GRCm39)	Q379L	possibly damaging	Het
Myh7	T	C	14: 55,222,590 (GRCm39)	S782G	probably benign	Het
Nobox	T	C	6: 43,282,053 (GRCm39)	D340G	probably damaging	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or2t29	G	A	11: 58,433,396 (GRCm39)	T315I	probably benign	Het
Or5b101	T	A	19: 13,005,661 (GRCm39)	I11F	probably benign	Het
Pikfyve	T	A	1: 65,307,959 (GRCm39)	I1845N	probably damaging	Het
Pramel15	A	G	4: 144,103,590 (GRCm39)	Y179H	probably benign	Het
Rad21l	T	G	2: 151,509,927 (GRCm39)	H58P	probably damaging	Het
Scnn1g	T	C	7: 121,345,825 (GRCm39)	L316S	probably damaging	Het
Serpina5	G	A	12: 104,068,460 (GRCm39)	V174I	probably damaging	Het
Shank1	T	C	7: 43,993,135 (GRCm39)	S788P	unknown	Het
Shisal1	T	A	15: 84,301,397 (GRCm39)	H82L	probably damaging	Het
Snap47	A	G	11: 59,319,343 (GRCm39)	V265A	possibly damaging	Het
Steap3	T	A	1: 120,171,616 (GRCm39)	H163L	probably benign	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,173,076 (GRCm39)	F1729L	probably benign	Het
Thsd7b	T	C	1: 130,116,276 (GRCm39)	V1343A	probably benign	Het
Ttc41	G	T	10: 86,565,662 (GRCm39)	M405I	possibly damaging	Het
Ttn	T	C	2: 76,577,873 (GRCm39)	D24340G	probably damaging	Het
Vmn1r10	T	G	6: 57,090,602 (GRCm39)	F65V	possibly damaging	Het
Vmn2r118	G	T	17: 55,899,581 (GRCm39)	D774E	probably damaging	Het
Vmn2r13	C	T	5: 109,304,331 (GRCm39)	C700Y	probably damaging	Het
Wsb1	A	C	11: 79,131,217 (GRCm39)	M393R	possibly damaging	Het
Zmat3	A	G	3: 32,397,504 (GRCm39)	Y214H	probably benign	Het
Zswim3	C	T	2: 164,662,099 (GRCm39)	T193I	possibly damaging	Het

Other mutations in Thumpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01750:Thumpd2	APN	17	81,361,815 (GRCm39)	missense	probably benign	0.00
IGL02409:Thumpd2	APN	17	81,340,117 (GRCm39)	missense	probably damaging	1.00
IGL02546:Thumpd2	APN	17	81,361,884 (GRCm39)	missense	probably benign	0.16
IGL03357:Thumpd2	APN	17	81,351,519 (GRCm39)	splice site	probably benign
R1295:Thumpd2	UTSW	17	81,363,317 (GRCm39)	missense	probably damaging	1.00
R2030:Thumpd2	UTSW	17	81,372,387 (GRCm39)	missense	probably damaging	1.00
R2898:Thumpd2	UTSW	17	81,351,557 (GRCm39)	nonsense	probably null
R4861:Thumpd2	UTSW	17	81,334,230 (GRCm39)	missense	probably benign	0.03
R4861:Thumpd2	UTSW	17	81,334,230 (GRCm39)	missense	probably benign	0.03
R5328:Thumpd2	UTSW	17	81,351,591 (GRCm39)	missense	possibly damaging	0.64
R5359:Thumpd2	UTSW	17	81,334,206 (GRCm39)	missense	probably benign	0.16
R6207:Thumpd2	UTSW	17	81,363,266 (GRCm39)	missense	probably damaging	1.00
R6218:Thumpd2	UTSW	17	81,360,342 (GRCm39)	missense	probably damaging	1.00
R6484:Thumpd2	UTSW	17	81,361,617 (GRCm39)	missense	probably benign	0.01
R6853:Thumpd2	UTSW	17	81,372,459 (GRCm39)	missense	possibly damaging	0.75
R6855:Thumpd2	UTSW	17	81,351,599 (GRCm39)	missense	probably damaging	1.00
R6917:Thumpd2	UTSW	17	81,351,543 (GRCm39)	missense	probably benign	0.00
R7018:Thumpd2	UTSW	17	81,363,326 (GRCm39)	nonsense	probably null
R7916:Thumpd2	UTSW	17	81,334,116 (GRCm39)	missense	probably benign	0.05
R7957:Thumpd2	UTSW	17	81,334,157 (GRCm39)	missense	probably benign	0.23
R8422:Thumpd2	UTSW	17	81,334,373 (GRCm39)	missense	probably damaging	1.00
R9248:Thumpd2	UTSW	17	81,334,040 (GRCm39)	missense	possibly damaging	0.83
R9727:Thumpd2	UTSW	17	81,345,585 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACTGGATACTGGAGAGTCC -3'
(R):5'- GACTTCCAAGGGTCACATCG -3'

Sequencing Primer
(F):5'- GACAAGAGTGTTTTTGGCCACATCC -3'
(R):5'- TCACATCGCTGAGCCTGAGATG -3'

Posted On

2016-02-04