Mutagenetix > Incidental Mutation

Incidental Mutation 'R9671:Gm3404'

728041

Institutional Source

Beutler Lab

Gene Symbol

Gm3404

Ensembl Gene

ENSMUSG00000079091

Gene Name

predicted gene 3404

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146462611-146465363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146463031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 71 (V71A)

Ref Sequence

ENSEMBL: ENSMUSP00000106226 (fasta)

Gene Model

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

AlphaFold

Q9D506

Predicted Effect

probably benign
Transcript: ENSMUST00000110596
AA Change: V71A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106226
Gene: ENSMUSG00000079091
AA Change: V71A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,948 (GRCm39)	L228*	probably null	Het
Acsf2	T	C	11: 94,460,802 (GRCm39)	D368G	probably benign	Het
Adat2	T	A	10: 13,438,452 (GRCm39)	N177K	probably damaging	Het
Adgrf5	G	T	17: 43,760,795 (GRCm39)	R830M	probably damaging	Het
Apoh	G	A	11: 108,286,792 (GRCm39)	W72*	probably null	Het
Bcl2l12	G	T	7: 44,642,301 (GRCm39)	P195Q	probably damaging	Het
Cacna1b	T	C	2: 24,596,282 (GRCm39)	M470V	probably benign	Het
Ccdc188	A	T	16: 18,036,268 (GRCm39)	R79*	probably null	Het
Cd34	T	A	1: 194,641,501 (GRCm39)	M309K	probably damaging	Het
Clec4a2	A	T	6: 123,101,942 (GRCm39)	K32N	possibly damaging	Het
Csmd3	G	T	15: 47,845,299 (GRCm39)	P88H		Het
Def6	A	G	17: 28,438,755 (GRCm39)	S154G	probably benign	Het
Dot1l	T	C	10: 80,620,613 (GRCm39)	L530P	probably damaging	Het
Fam13a	A	G	6: 58,951,014 (GRCm39)		probably null	Het
Fat3	G	A	9: 16,286,871 (GRCm39)	A884V	possibly damaging	Het
Frem3	C	A	8: 81,339,134 (GRCm39)	H476N	probably benign	Het
Hnf4g	T	G	3: 3,703,273 (GRCm39)	S53R	probably benign	Het
Ighv13-2	T	C	12: 114,321,796 (GRCm39)	N15D	probably benign	Het
Jak1	T	C	4: 101,034,926 (GRCm39)	K339E	possibly damaging	Het
Klhl35	C	G	7: 99,117,702 (GRCm39)	P82R	probably benign	Het
Klhl40	T	A	9: 121,607,743 (GRCm39)	V301E	probably benign	Het
Knl1	A	T	2: 118,901,089 (GRCm39)	N930I	probably damaging	Het
Ltbp1	A	G	17: 75,603,217 (GRCm39)		probably null	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Myo3b	A	G	2: 70,086,908 (GRCm39)	H852R	probably damaging	Het
Or51a6	A	T	7: 102,604,633 (GRCm39)	H58Q	probably benign	Het
Pkd2	A	G	5: 104,637,256 (GRCm39)	D623G	probably damaging	Het
Pramel14	A	C	4: 143,719,687 (GRCm39)	I226S	probably benign	Het
Rfxank	T	C	8: 70,588,198 (GRCm39)	T118A	probably benign	Het
Rxrb	T	A	17: 34,252,020 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,025,486 (GRCm39)	V337M	probably damaging	Het
Sema3e	A	G	5: 14,212,217 (GRCm39)	T98A	probably benign	Het
Ska1	A	T	18: 74,333,010 (GRCm39)	M136K	probably damaging	Het
Slc19a3	T	C	1: 83,000,297 (GRCm39)	D240G	probably benign	Het
Snph	T	C	2: 151,436,331 (GRCm39)	Y199C	probably damaging	Het
Sorl1	A	T	9: 41,943,077 (GRCm39)	I933N	possibly damaging	Het
Spag16	C	A	1: 69,883,495 (GRCm39)	H75N	probably benign	Het
Spice1	C	T	16: 44,199,671 (GRCm39)	R708C	probably benign	Het
Tet3	C	A	6: 83,381,136 (GRCm39)	S344I	possibly damaging	Het
Trav5-4	A	G	14: 53,941,816 (GRCm39)	E63G	possibly damaging	Het
Trp73	G	A	4: 154,148,403 (GRCm39)	P337L	probably benign	Het
Ttn	A	G	2: 76,778,359 (GRCm39)	F1343L	unknown	Het
Vipas39	T	C	12: 87,292,985 (GRCm39)	H320R	probably benign	Het
Vmn2r4	T	C	3: 64,317,271 (GRCm39)	I156V	probably benign	Het
Wdr81	T	C	11: 75,345,189 (GRCm39)	D26G	probably damaging	Het
Zscan4d	A	T	7: 10,898,945 (GRCm39)	F111I	probably damaging	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
R6641:Gm3404	UTSW	5	146,464,518 (GRCm39)	missense	probably damaging	0.97
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
Z1177:Gm3404	UTSW	5	146,463,026 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGACACTGAGGAGCATTCTTG -3'
(R):5'- AACACTGCCAGGGTGCAATC -3'

Sequencing Primer
(F):5'- GATGCTTACTGATCACTCCATGG -3'
(R):5'- TTCTATGGGAGCACAGAGTCC -3'

Posted On

2022-10-06