Mutagenetix > Incidental Mutation

Incidental Mutation 'R3774:Gm5565'

473729

Institutional Source

Beutler Lab

Gene Symbol

Gm5565

Ensembl Gene

ENSMUSG00000104752

Gene Name

predicted gene 5565

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R3774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146094612-146097349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146095419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 192 (E192V)

Ref Sequence

ENSEMBL: ENSMUSP00000143497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000199463]

AlphaFold

A0A0G2JGB2

Predicted Effect

probably benign
Transcript: ENSMUST00000199463
AA Change: E192V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143497
Gene: ENSMUSG00000104752
AA Change: E192V

Domain	Start	End	E-Value	Type
RasGEFN	66	182	2.8e-3	SMART
low complexity region	270	289	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,638,734 (GRCm39)	V213A	probably benign	Het
Ccndbp1	A	G	2: 120,839,581 (GRCm39)	K26R	possibly damaging	Het
Chrna10	T	C	7: 101,763,535 (GRCm39)	T87A	probably benign	Het
Col27a1	T	A	4: 63,232,963 (GRCm39)	N360K	probably benign	Het
Crispld2	T	C	8: 120,756,005 (GRCm39)	S325P	probably damaging	Het
Dgkd	T	A	1: 87,864,022 (GRCm39)	I79N	probably damaging	Het
Dhdh	T	A	7: 45,131,362 (GRCm39)	D157V	probably benign	Het
Dnajc15	A	T	14: 78,094,377 (GRCm39)		probably null	Het
Fbxo44	G	T	4: 148,241,051 (GRCm39)	F179L	probably damaging	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Itgav	A	G	2: 83,622,308 (GRCm39)	E630G	probably damaging	Het
Iws1	T	C	18: 32,213,048 (GRCm39)	S159P	probably damaging	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mon1a	A	G	9: 107,778,502 (GRCm39)	Y242C	probably damaging	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mttp	T	C	3: 137,820,024 (GRCm39)		probably null	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Olfm5	T	A	7: 103,811,056 (GRCm39)	R27S	possibly damaging	Het
Or52n2b	T	A	7: 104,566,113 (GRCm39)	Y130F	probably benign	Het
Palmd	T	C	3: 116,721,312 (GRCm39)	E81G	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Phf11b	A	G	14: 59,563,506 (GRCm39)	L137S	probably benign	Het
Phlpp1	GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	1: 106,320,921 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,800,065 (GRCm39)	K472E	probably benign	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Pomt1	A	G	2: 32,134,262 (GRCm39)	H261R	possibly damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rad23b	C	T	4: 55,382,589 (GRCm39)	T264I	possibly damaging	Het
Rfc1	T	C	5: 65,421,749 (GRCm39)	Y1050C	probably damaging	Het
Septin8	T	C	11: 53,428,406 (GRCm39)	V352A	probably damaging	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Ssh1	T	C	5: 114,104,783 (GRCm39)	D12G	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Trpm3	T	C	19: 22,955,966 (GRCm39)	F1143L	possibly damaging	Het
Trpm3	T	A	19: 22,965,339 (GRCm39)	S1611R	probably benign	Het
Ttyh3	A	G	5: 140,634,489 (GRCm39)	F32L	probably damaging	Het
Unkl	T	A	17: 25,407,381 (GRCm39)		probably null	Het
Vwf	T	A	6: 125,626,062 (GRCm39)		probably null	Het
Wdr11	T	A	7: 129,233,417 (GRCm39)		probably null	Het
Yeats2	A	G	16: 19,969,245 (GRCm39)	D12G	probably damaging	Het

Other mutations in Gm5565

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4362001:Gm5565	UTSW	5	146,095,109 (GRCm39)	missense	probably benign	0.05
R3776:Gm5565	UTSW	5	146,095,419 (GRCm39)	missense	probably benign	0.18
R4872:Gm5565	UTSW	5	146,094,913 (GRCm39)	missense	probably benign
R5232:Gm5565	UTSW	5	146,096,947 (GRCm39)	missense	possibly damaging	0.94
R6357:Gm5565	UTSW	5	146,097,283 (GRCm39)	missense	possibly damaging	0.55
R6562:Gm5565	UTSW	5	146,094,964 (GRCm39)	missense	probably damaging	1.00
R7094:Gm5565	UTSW	5	146,095,084 (GRCm39)	missense	probably benign	0.00
R7182:Gm5565	UTSW	5	146,094,865 (GRCm39)	missense	probably benign
R7325:Gm5565	UTSW	5	146,095,171 (GRCm39)	splice site	probably null
R8391:Gm5565	UTSW	5	146,096,962 (GRCm39)	missense	probably benign
R8700:Gm5565	UTSW	5	146,097,236 (GRCm39)	missense	probably damaging	0.99
R9047:Gm5565	UTSW	5	146,094,849 (GRCm39)	missense	probably damaging	1.00
R9276:Gm5565	UTSW	5	146,096,917 (GRCm39)	missense	probably damaging	1.00
Z1088:Gm5565	UTSW	5	146,095,479 (GRCm39)	missense	probably benign	0.02

Predicted Primers

Posted On

2017-04-14