Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Thumpd2'

422188

Institutional Source

Beutler Lab

Gene Symbol

Thumpd2

Ensembl Gene

ENSMUSG00000024246

Gene Name

THUMP domain containing 2

Synonyms

2810025A12Rik

MMRRC Submission

042843-MU

Accession Numbers

Essential gene?

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

Stock #

R5328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81333761-81372511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81351591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 277 (I277F)

Ref Sequence

ENSEMBL: ENSMUSP00000025093 (fasta)

Gene Model

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

AlphaFold

Q9CZB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025093
AA Change: I277F

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025093
Gene: ENSMUSG00000024246
AA Change: I277F

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,887,694 (GRCm39)	V860E	possibly damaging	Het
Abcc6	T	C	7: 45,641,735 (GRCm39)	D881G	probably benign	Het
Abcc9	A	G	6: 142,627,785 (GRCm39)	V415A	probably benign	Het
Adgrb3	A	C	1: 25,133,356 (GRCm39)	N1003K	possibly damaging	Het
Adora3	C	T	3: 105,814,619 (GRCm39)	T123I	probably benign	Het
Amotl2	A	C	9: 102,600,967 (GRCm39)	T345P	probably benign	Het
Arap3	C	T	18: 38,124,740 (GRCm39)	E247K	possibly damaging	Het
Atp8b1	A	T	18: 64,664,462 (GRCm39)	D1235E	probably benign	Het
Axl	A	T	7: 25,472,836 (GRCm39)	V400E	probably damaging	Het
Brd8	T	A	18: 34,741,034 (GRCm39)	N431Y	probably benign	Het
Cadps	A	T	14: 12,457,790 (GRCm38)	N1025K	probably benign	Het
Cblc	A	T	7: 19,526,505 (GRCm39)	S195T	possibly damaging	Het
Chd2	C	T	7: 73,113,429 (GRCm39)	A1184T	possibly damaging	Het
Chst10	G	A	1: 38,935,043 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,527,342 (GRCm39)	K2663E	probably damaging	Het
Cspg4	A	T	9: 56,793,140 (GRCm39)	I292L	probably benign	Het
Cul1	T	C	6: 47,485,251 (GRCm39)	V294A	probably damaging	Het
Cyp2d11	G	A	15: 82,275,972 (GRCm39)	P203L	probably benign	Het
Dnaaf10	C	A	11: 17,172,220 (GRCm39)	P103Q	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eif3l	A	T	15: 78,977,561 (GRCm39)	K534*	probably null	Het
Enpep	T	C	3: 129,074,159 (GRCm39)	E796G	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam117a	T	A	11: 95,254,996 (GRCm39)		probably null	Het
Fan1	A	T	7: 64,004,217 (GRCm39)	Y750N	probably damaging	Het
Fat4	T	A	3: 39,011,017 (GRCm39)	I2039N	probably damaging	Het
Gabrr2	G	T	4: 33,082,565 (GRCm39)	D106Y	probably damaging	Het
Gak	A	C	5: 108,764,867 (GRCm39)	C145G	possibly damaging	Het
Galnt14	A	T	17: 73,812,454 (GRCm39)	N406K	possibly damaging	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm10837	G	T	14: 122,728,190 (GRCm39)	R22L	unknown	Het
Gm19965	T	A	1: 116,749,148 (GRCm39)	H276Q	possibly damaging	Het
Gm43517	T	C	12: 49,437,939 (GRCm39)		probably benign	Het
Greb1l	A	T	18: 10,553,720 (GRCm39)	I1574F	probably damaging	Het
Gzme	G	A	14: 56,355,224 (GRCm39)	H236Y	probably benign	Het
Heatr5b	G	A	17: 79,133,791 (GRCm39)	T266I	possibly damaging	Het
Hk3	T	C	13: 55,161,306 (GRCm39)	I185V	probably benign	Het
Hnrnpr	A	G	4: 136,066,527 (GRCm39)	E302G	probably benign	Het
Itgal	T	C	7: 126,910,847 (GRCm39)		probably null	Het
Itk	A	G	11: 46,222,703 (GRCm39)	S583P	probably benign	Het
Loxhd1	A	T	18: 77,498,268 (GRCm39)	I1448F	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Man2a2	A	T	7: 80,018,504 (GRCm39)	F118L	probably benign	Het
Mfsd5	T	A	15: 102,189,447 (GRCm39)	V273E	probably damaging	Het
Nfe2l2	A	G	2: 75,507,200 (GRCm39)	L300P	probably damaging	Het
Nt5c1a	T	G	4: 123,102,786 (GRCm39)	L122R	possibly damaging	Het
Nt5c3b	A	G	11: 100,331,067 (GRCm39)	F42S	probably damaging	Het
Or2av9	C	A	11: 58,381,255 (GRCm39)	A109S	possibly damaging	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Pabpc1	A	T	15: 36,603,121 (GRCm39)	D204E	probably benign	Het
Panx2	A	G	15: 88,952,298 (GRCm39)	N255S	probably damaging	Het
Pcnt	A	G	10: 76,247,553 (GRCm39)	L993P	probably damaging	Het
Pfas	A	T	11: 68,879,418 (GRCm39)	C1160S	probably damaging	Het
Plekhh3	T	A	11: 101,058,484 (GRCm39)		probably benign	Het
Plod3	T	A	5: 137,018,537 (GRCm39)	N258K	probably damaging	Het
Prr14l	T	C	5: 32,987,365 (GRCm39)	Q710R	probably benign	Het
Rnf216	G	T	5: 143,078,754 (GRCm39)	T65K	possibly damaging	Het
Samd9l	T	C	6: 3,376,739 (GRCm39)	E174G	probably damaging	Het
Septin12	T	A	16: 4,811,857 (GRCm39)	M63L	possibly damaging	Het
Sh3bgrl2	T	A	9: 83,459,509 (GRCm39)	D22E	probably benign	Het
Sirpd	T	C	3: 15,397,234 (GRCm39)	M17V	unknown	Het
Skil	A	G	3: 31,171,718 (GRCm39)	K488R	probably benign	Het
Slamf6	T	A	1: 171,765,662 (GRCm39)	I262K	probably benign	Het
Slc27a3	T	C	3: 90,294,139 (GRCm39)	D470G	probably damaging	Het
Sorbs3	A	T	14: 70,418,623 (GRCm39)	V680E	probably damaging	Het
Sox9	C	T	11: 112,673,484 (GRCm39)	T25I	probably benign	Het
Srsf1	G	T	11: 87,940,819 (GRCm39)		probably benign	Het
Stard9	A	C	2: 120,529,711 (GRCm39)	E1989D	probably damaging	Het
Tinag	C	A	9: 76,912,913 (GRCm39)	G299*	probably null	Het
Tk2	A	T	8: 104,955,931 (GRCm39)		probably null	Het
Tmem44	A	G	16: 30,359,709 (GRCm39)	S210P	possibly damaging	Het
Traf3ip1	C	A	1: 91,447,791 (GRCm39)	P423T	probably damaging	Het
Trmt12	A	G	15: 58,744,704 (GRCm39)	D34G	probably damaging	Het
Ttc39b	A	G	4: 83,180,178 (GRCm39)	Y72H	probably damaging	Het
Ttn	G	A	2: 76,708,755 (GRCm39)		probably benign	Het
Ttyh2	T	A	11: 114,600,894 (GRCm39)	I381N	possibly damaging	Het
Uaca	A	T	9: 60,777,814 (GRCm39)	N734Y	probably benign	Het
Usp34	T	C	11: 23,414,616 (GRCm39)	I2853T	probably benign	Het
Usp34	G	A	11: 23,438,659 (GRCm39)	G3407D	probably benign	Het
Vmn2r78	A	G	7: 86,570,238 (GRCm39)	Y252C	probably damaging	Het
Wdr19	G	A	5: 65,401,522 (GRCm39)	C979Y	probably damaging	Het
Yeats2	A	T	16: 19,989,955 (GRCm39)	H277L	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfat	C	A	15: 68,051,677 (GRCm39)	G706C	probably damaging	Het
Zfp106	A	T	2: 120,350,898 (GRCm39)	N1584K	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
R4805:Thumpd2	UTSW	17	81,334,130 (GRCm39)	missense	probably damaging	0.98
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
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'- ATTAAGTCCATTGGCAGCTGC -3'
(R):5'- GGAAGTGCTAAGTAAGAGGTTTCC -3'

Sequencing Primer
(F):5'- ACCACCAGACTGTGTAGT -3'
(R):5'- TGCATCCTGTGCTTTAGC -3'

Posted On

2016-08-04