Mutagenetix > Incidental Mutation

Incidental Mutation 'R3974:Vps37d'

312521

Institutional Source

Beutler Lab

Gene Symbol

Vps37d

Ensembl Gene

ENSMUSG00000043614

Gene Name

vacuolar protein sorting 37D

Synonyms

Wbscr24

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135101754-135107120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135105393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 77 (M77V)

Ref Sequence

ENSEMBL: ENSMUSP00000063762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067935] [ENSMUST00000076203]

AlphaFold

Q810I0

Predicted Effect

probably null
Transcript: ENSMUST00000067935
AA Change: M77V

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063762
Gene: ENSMUSG00000043614
AA Change: M77V

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:Mod_r	21	165	8.1e-35	PFAM
low complexity region	181	195	N/A	INTRINSIC
low complexity region	209	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076203

SMART Domains

Protein: ENSMUSP00000075559
Gene: ENSMUSG00000043614

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:Mod_r	46	83	1.2e-10	PFAM
low complexity region	96	110	N/A	INTRINSIC
low complexity region	124	141	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
Abca8a	A	T	11: 109,974,328 (GRCm39)	M202K	probably damaging	Het
Abhd4	T	A	14: 54,500,417 (GRCm39)	I117N	probably damaging	Het
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenph	A	G	13: 100,900,075 (GRCm39)	V151A	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Cnbd1	G	A	4: 18,887,693 (GRCm39)	R274C	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Dll4	A	G	2: 119,164,573 (GRCm39)	D664G	probably damaging	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Far2	T	A	6: 148,052,252 (GRCm39)	I177N	probably damaging	Het
Flt4	T	G	11: 49,527,567 (GRCm39)	V910G	probably damaging	Het
Fmod	A	G	1: 133,968,496 (GRCm39)	R179G	probably benign	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Grik2	A	T	10: 49,298,750 (GRCm39)	Y37N	probably damaging	Het
Grn	T	C	11: 102,327,165 (GRCm39)	V559A	probably damaging	Het
Lrrc37	A	T	11: 103,509,927 (GRCm39)		probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myo5b	T	C	18: 74,767,552 (GRCm39)	Y287H	probably damaging	Het
Nbeal2	T	C	9: 110,462,914 (GRCm39)	T1350A	probably damaging	Het
Nfkbiz	T	C	16: 55,638,799 (GRCm39)	I220M	probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Omg	T	A	11: 79,393,224 (GRCm39)	E211D	probably benign	Het
Or52ab7	T	G	7: 102,978,285 (GRCm39)	D197E	probably damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,901 (GRCm39)	T404A	possibly damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Ptprq	T	G	10: 107,547,923 (GRCm39)	K158N	possibly damaging	Het
Rimbp2	A	G	5: 128,874,862 (GRCm39)	V243A	probably damaging	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rtn4	C	T	11: 29,657,505 (GRCm39)	T553I	probably damaging	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1f	C	A	12: 103,659,830 (GRCm39)	G151*	probably null	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slco1a1	A	T	6: 141,854,819 (GRCm39)	S611T	probably benign	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Syne1	T	C	10: 4,993,630 (GRCm39)	D8370G	probably benign	Het
Tigd4	G	A	3: 84,502,585 (GRCm39)	A501T	possibly damaging	Het
Tjp1	A	T	7: 64,947,387 (GRCm39)	C1724*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tyw5	A	T	1: 57,430,687 (GRCm39)	D165E	probably damaging	Het
U2af2	T	A	7: 5,072,438 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,550,491 (GRCm39)	D839E	probably benign	Het
Ush2a	A	G	1: 188,113,698 (GRCm39)	D639G	probably benign	Het
Veph1	A	T	3: 66,065,648 (GRCm39)	M473K	probably benign	Het
Vmn2r72	A	T	7: 85,399,017 (GRCm39)	N445K	probably damaging	Het

Other mutations in Vps37d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0463:Vps37d	UTSW	5	135,105,395 (GRCm39)	missense	probably damaging	0.98
R0750:Vps37d	UTSW	5	135,103,294 (GRCm39)	missense	possibly damaging	0.72
R1832:Vps37d	UTSW	5	135,102,594 (GRCm39)	missense	possibly damaging	0.50
R2046:Vps37d	UTSW	5	135,102,831 (GRCm39)	missense	probably benign	0.07
R3813:Vps37d	UTSW	5	135,103,304 (GRCm39)	nonsense	probably null
R5537:Vps37d	UTSW	5	135,103,256 (GRCm39)	missense	possibly damaging	0.93
R8678:Vps37d	UTSW	5	135,105,386 (GRCm39)	missense	probably damaging	0.98
R8848:Vps37d	UTSW	5	135,102,519 (GRCm39)	missense	probably damaging	0.99
X0020:Vps37d	UTSW	5	135,106,960 (GRCm39)	nonsense	probably null
Z1177:Vps37d	UTSW	5	135,102,603 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACACTTTGTCCAGGAGTAGGTG -3'
(R):5'- TTGTAGTAGAAACTGGGGCCC -3'

Sequencing Primer
(F):5'- AGTAGGTGTGTCCCAGTCC -3'
(R):5'- CTGTCACCCTTGCAGGTTGG -3'

Posted On

2015-04-30