Mutagenetix > Incidental Mutation

Incidental Mutation 'R6641:Gm3404'

525795

Institutional Source

Beutler Lab

Gene Symbol

Gm3404

Ensembl Gene

ENSMUSG00000079091

Gene Name

predicted gene 3404

Synonyms

MMRRC Submission

044762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6641 (G1)

Quality Score

148.008

Status

Not validated

Chromosome

Chromosomal Location

146462611-146465363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 146464518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 173 (A173D)

Ref Sequence

ENSEMBL: ENSMUSP00000106226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110596]

AlphaFold

Q9D506

Predicted Effect

probably damaging
Transcript: ENSMUST00000110596
AA Change: A173D

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106226
Gene: ENSMUSG00000079091
AA Change: A173D

Domain	Start	End	E-Value	Type
RasGEFN	66	181	2.8e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	C	T	16: 88,555,974 (GRCm39)	P63S	unknown	Het
Aadac	T	C	3: 59,947,153 (GRCm39)	S284P	probably damaging	Het
Casp12	G	A	9: 5,354,612 (GRCm39)	C257Y	probably benign	Het
Chil6	T	A	3: 106,296,240 (GRCm39)	I361F	possibly damaging	Het
Cubn	A	C	2: 13,480,875 (GRCm39)	S327A	probably damaging	Het
Desi2	A	T	1: 178,071,943 (GRCm39)	E82D	possibly damaging	Het
Dym	T	A	18: 75,189,712 (GRCm39)	I100N	probably damaging	Het
Gm14418	G	T	2: 177,079,623 (GRCm39)	T124K	probably benign	Het
Gm28042	T	A	2: 119,870,164 (GRCm39)	I701N	probably damaging	Het
Hipk1	A	T	3: 103,660,721 (GRCm39)	L738Q	probably damaging	Het
Klk10	G	T	7: 43,434,324 (GRCm39)	D239Y	possibly damaging	Het
Kmt2a	T	C	9: 44,731,132 (GRCm39)		probably benign	Het
Lepr	T	A	4: 101,622,502 (GRCm39)	D427E	probably damaging	Het
Lrp5	G	A	19: 3,702,287 (GRCm39)	R177W	probably damaging	Het
Mtg2	A	G	2: 179,727,301 (GRCm39)	T318A	probably benign	Het
Myh7	A	G	14: 55,219,737 (GRCm39)	V1044A	probably benign	Het
Nrsn2	A	G	2: 152,211,830 (GRCm39)	V67A	probably benign	Het
Or2b11	T	C	11: 59,461,666 (GRCm39)	D300G	possibly damaging	Het
Pcdha8	A	G	18: 37,126,850 (GRCm39)	E444G	probably damaging	Het
Pdgfra	T	C	5: 75,322,762 (GRCm39)		probably benign	Het
Pik3c2a	T	C	7: 115,939,460 (GRCm39)		probably null	Het
Prpf40a	T	G	2: 53,031,638 (GRCm39)		probably benign	Het
Reln	A	C	5: 22,134,132 (GRCm39)	Y2599D	probably damaging	Het
Septin11	T	A	5: 93,287,411 (GRCm39)	I42N	probably damaging	Het
Slc22a15	G	A	3: 101,783,022 (GRCm39)	A216V	possibly damaging	Het
Slc33a1	T	A	3: 63,861,327 (GRCm39)	T292S	probably benign	Het
Slc5a11	A	G	7: 122,837,378 (GRCm39)	K56R	probably benign	Het
Slc7a13	G	A	4: 19,839,534 (GRCm39)	G379E	probably damaging	Het
Spata31g1	A	G	4: 42,971,245 (GRCm39)	I193V	possibly damaging	Het
Specc1l	A	G	10: 75,082,383 (GRCm39)	E593G	probably damaging	Het
Spef2	A	T	15: 9,626,059 (GRCm39)	M1169K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Vipr1	A	G	9: 121,498,631 (GRCm39)	*460W	probably null	Het
Zbtb18	T	A	1: 177,275,609 (GRCm39)	L323Q	probably damaging	Het
Zfyve1	A	G	12: 83,641,270 (GRCm39)	S129P	probably benign	Het

Other mutations in Gm3404

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Gm3404	APN	5	146,465,095 (GRCm39)	missense	probably damaging	0.98
IGL01611:Gm3404	APN	5	146,465,157 (GRCm39)	missense	possibly damaging	0.46
IGL02721:Gm3404	APN	5	146,463,738 (GRCm39)	nonsense	probably null
IGL03134:Gm3404	UTSW	5	146,463,706 (GRCm39)	missense	probably benign
R1758:Gm3404	UTSW	5	146,463,036 (GRCm39)	missense	probably benign	0.02
R6324:Gm3404	UTSW	5	146,464,917 (GRCm39)	missense	possibly damaging	0.79
R6671:Gm3404	UTSW	5	146,464,487 (GRCm39)	missense	probably benign	0.05
R7042:Gm3404	UTSW	5	146,462,969 (GRCm39)	missense	probably benign
R8331:Gm3404	UTSW	5	146,462,759 (GRCm39)	missense	probably damaging	0.97
R8395:Gm3404	UTSW	5	146,462,724 (GRCm39)	missense	possibly damaging	0.79
R8547:Gm3404	UTSW	5	146,465,108 (GRCm39)	missense	possibly damaging	0.92
R8874:Gm3404	UTSW	5	146,464,953 (GRCm39)	missense	possibly damaging	0.95
R9280:Gm3404	UTSW	5	146,462,756 (GRCm39)	missense	possibly damaging	0.46
R9671:Gm3404	UTSW	5	146,463,031 (GRCm39)	missense	probably benign	0.04
Z1177:Gm3404	UTSW	5	146,463,026 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCTTCTGACTCAACTTCC -3'
(R):5'- AGGCCTTTTCATGACAGAAGATC -3'

Sequencing Primer
(F):5'- TGACTCAACTTCCCTCCAAC -3'
(R):5'- TTTTCATGACAGAAGATCCCCAGTC -3'

Posted On

2018-06-22