Mutagenetix > Incidental Mutation

Incidental Mutation 'R3813:Vps37d'

274144

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 #

R3813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135101754-135107120 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 135103304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 113 (Q113*)

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: Q113*

SMART Domains

Protein: ENSMUSP00000063762
Gene: ENSMUSG00000043614
AA Change: Q113*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,825,785 (GRCm39)	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,738,193 (GRCm39)	L562Q	probably benign	Het
Ankrd11	T	C	8: 123,618,117 (GRCm39)	T1891A	probably benign	Het
Arid2	A	G	15: 96,267,831 (GRCm39)	N648S	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,013,085 (GRCm39)	I312F	probably damaging	Het
Cenpj	A	G	14: 56,790,679 (GRCm39)	S457P	probably benign	Het
Cep120	G	A	18: 53,873,284 (GRCm39)		probably benign	Het
Cfap70	T	A	14: 20,471,190 (GRCm39)	I493L	possibly damaging	Het
Cfap97d1	A	T	11: 101,882,314 (GRCm39)	R106S	probably benign	Het
Csmd3	T	C	15: 48,655,209 (GRCm39)	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,439,466 (GRCm39)	Y54H	probably damaging	Het
Cubn	T	A	2: 13,299,136 (GRCm39)	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,505,291 (GRCm39)		probably null	Het
Dll4	C	A	2: 119,161,510 (GRCm39)	T364N	possibly damaging	Het
Doc2g	C	T	19: 4,054,466 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,793,246 (GRCm39)	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,371,577 (GRCm39)		probably null	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
Gpat3	A	G	5: 101,039,505 (GRCm39)		probably benign	Het
H2-Q4	A	G	17: 35,602,071 (GRCm39)	H311R	possibly damaging	Het
Hipk4	T	C	7: 27,223,372 (GRCm39)	L144S	probably damaging	Het
Hspa4	G	A	11: 53,161,806 (GRCm39)	P449S	probably benign	Het
Kif7	A	G	7: 79,363,638 (GRCm39)	V90A	probably damaging	Het
Klhl38	T	C	15: 58,185,953 (GRCm39)	I259V	probably benign	Het
Krt9	T	A	11: 100,080,503 (GRCm39)	E414D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Manba	G	A	3: 135,269,023 (GRCm39)	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,090,799 (GRCm39)	L7Q	probably benign	Het
Mdga1	G	A	17: 30,057,453 (GRCm39)	P788S	probably damaging	Het
Or5d35	T	C	2: 87,855,105 (GRCm39)	F13S	probably damaging	Het
Or6c70	T	A	10: 129,709,855 (GRCm39)	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,416,667 (GRCm39)	R153*	probably null	Het
Plk3	T	C	4: 116,990,647 (GRCm39)	Y89C	probably damaging	Het
Prss41	G	A	17: 24,056,596 (GRCm39)	R160*	probably null	Het
Rae1	T	A	2: 172,848,666 (GRCm39)		probably benign	Het
Rbm17	T	A	2: 11,600,246 (GRCm39)		probably benign	Het
Recql4	A	T	15: 76,588,694 (GRCm39)	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slit3	A	G	11: 35,566,806 (GRCm39)	Y1026C	probably damaging	Het
Tbl2	T	A	5: 135,185,375 (GRCm39)		probably null	Het
Tex2	G	A	11: 106,402,770 (GRCm39)	T1034I	unknown	Het
Tmem241	A	T	18: 12,200,167 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,256,389 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Trmt1	T	A	8: 85,421,846 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,816,218 (GRCm39)	E242G	possibly 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
R3974:Vps37d	UTSW	5	135,105,393 (GRCm39)	missense	probably null	0.11
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'- TCCTGAGCGGAGTCCAGAAA -3'
(R):5'- GTGCCCGTGTTATTGAACATACT -3'

Sequencing Primer
(F):5'- AGTTCTGGAAGCAATCACGG -3'
(R):5'- GATAGGAGTTTGGTTTCCAACACCC -3'

Posted On

2015-04-02