Mutagenetix > Incidental Mutation

Incidental Mutation 'R6560:Gm3072'

522033

Institutional Source

Beutler Lab

Gene Symbol

Gm3072

Ensembl Gene

ENSMUSG00000091657

Gene Name

predicted gene 3072

Synonyms

MMRRC Submission

044684-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R6560 (G1)

Quality Score

135.008

Status

Not validated

Chromosome

Chromosomal Location

41341243-41346569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41345510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 89 (D89V)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000167712
AA Change: D89V

SMART Domains

Protein: ENSMUSP00000127174
Gene: ENSMUSG00000091657
AA Change: D89V

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	1.2e-26	PFAM
coiled coil region	164	186	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,843,230 (GRCm39)	L1235Q	probably damaging	Het
Acin1	T	C	14: 54,916,290 (GRCm39)	T174A	probably benign	Het
Adamtsl1	G	A	4: 86,255,130 (GRCm39)	R733H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Arsk	A	T	13: 76,223,105 (GRCm39)	I164N	probably benign	Het
Bbs5	T	A	2: 69,487,300 (GRCm39)	N194K	probably damaging	Het
Bicra	T	C	7: 15,723,119 (GRCm39)	T133A	possibly damaging	Het
Card6	G	A	15: 5,128,367 (GRCm39)	P1010S	probably damaging	Het
Ccdc18	T	A	5: 108,339,790 (GRCm39)	N778K	probably benign	Het
Cept1	T	C	3: 106,412,594 (GRCm39)	I240V	possibly damaging	Het
Crip3	A	G	17: 46,741,962 (GRCm39)	R150G	probably damaging	Het
Cyp2c50	A	G	19: 40,085,299 (GRCm39)	T320A	probably benign	Het
Dio2	G	C	12: 90,696,607 (GRCm39)	S127*	probably null	Het
Dnai3	T	C	3: 145,801,161 (GRCm39)	E99G	possibly damaging	Het
Dscam	T	C	16: 96,626,935 (GRCm39)	S325G	probably benign	Het
Exosc4	A	G	15: 76,211,813 (GRCm39)	I41V	probably benign	Het
Glb1l3	C	T	9: 26,739,720 (GRCm39)		probably null	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gosr2	T	C	11: 103,577,508 (GRCm39)	H79R	probably damaging	Het
Has2	T	A	15: 56,531,660 (GRCm39)	T352S	probably damaging	Het
Insig1	T	A	5: 28,276,531 (GRCm39)	C32*	probably null	Het
Klf9	A	G	19: 23,119,314 (GRCm39)	S66G	probably damaging	Het
Mfn1	T	C	3: 32,623,665 (GRCm39)	I263T	probably damaging	Het
Myl2	G	A	5: 122,240,834 (GRCm39)	G38R	probably null	Het
Negr1	A	G	3: 157,018,494 (GRCm39)	T332A	probably benign	Het
Neo1	A	G	9: 58,787,884 (GRCm39)	S1417P	possibly damaging	Het
Or52ab4	T	C	7: 102,987,945 (GRCm39)	F228S	probably benign	Het
Or7e168	G	A	9: 19,720,412 (GRCm39)	S266N	probably benign	Het
Pcgf3	C	A	5: 108,621,768 (GRCm39)	H35Q	probably damaging	Het
Plppr5	A	G	3: 117,465,639 (GRCm39)	I297V	probably benign	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Prx	A	T	7: 27,214,746 (GRCm39)	Q85H	probably damaging	Het
Tex14	T	G	11: 87,388,688 (GRCm39)	M305R	possibly damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het
Zfp619	G	A	7: 39,186,954 (GRCm39)	E995K	probably damaging	Het
Zfp90	A	G	8: 107,142,379 (GRCm39)	R4G	probably damaging	Het

Predicted Primers

PCR Primer
(F):5'- CTGCATCGAAATTCCAATCAGC -3'
(R):5'- TGCACTATCAGGGATTCTCAGTG -3'

Sequencing Primer
(F):5'- CCAATCAGCAAAATTGATTTGGG -3'
(R):5'- CTCAGGCTTCTGTGTGGGAAAAATC -3'

Posted On

2018-06-06