Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Gm57859'

713454

Institutional Source

Beutler Lab

Gene Symbol

Gm57859

Ensembl Gene

ENSMUSG00000041623

Gene Name

predicted gene, 57859

Synonyms

D11Wsu47e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113575238-113585473 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 113583229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 519 (Q519*)

Ref Sequence

ENSEMBL: ENSMUSP00000042025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000123466] [ENSMUST00000153732]

AlphaFold

Q6PIX9

Predicted Effect

probably null
Transcript: ENSMUST00000042227
AA Change: Q519*

SMART Domains

Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: Q519*

Domain	Start	End	E-Value	Type
low complexity region	273	283	N/A	INTRINSIC
low complexity region	491	510	N/A	INTRINSIC
transmembrane domain	529	548	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106621
AA Change: Q519*

SMART Domains

Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: Q519*

Domain	Start	End	E-Value	Type
low complexity region	273	283	N/A	INTRINSIC
low complexity region	491	510	N/A	INTRINSIC
transmembrane domain	529	548	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123466

Predicted Effect

probably benign
Transcript: ENSMUST00000153732

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,048 (GRCm39)	E412D	probably benign	Het
Aak1	T	A	6: 86,933,274 (GRCm39)	V415D	probably damaging	Het
Ache	A	C	5: 137,289,185 (GRCm39)	D297A	probably damaging	Het
Armc9	T	C	1: 86,084,687 (GRCm39)	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,851,492 (GRCm39)	Y925F		Het
Avpr1b	T	C	1: 131,528,029 (GRCm39)	L184P	probably damaging	Het
Cabin1	G	A	10: 75,581,069 (GRCm39)	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,884,597 (GRCm39)	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,127,617 (GRCm39)	C40*	probably null	Het
Col6a3	A	T	1: 90,744,155 (GRCm39)	I471N	probably damaging	Het
Cp	A	G	3: 20,046,671 (GRCm39)		probably null	Het
Cyfip2	C	T	11: 46,091,668 (GRCm39)	R1084Q	probably damaging	Het
Diaph1	A	G	18: 38,029,412 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,012,330 (GRCm39)	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,621,438 (GRCm39)	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,715,030 (GRCm39)	M809K	probably damaging	Het
Fcgbp	C	A	7: 27,803,436 (GRCm39)	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,515,207 (GRCm39)	F1072L	probably damaging	Het
Gm19410	G	T	8: 36,248,810 (GRCm39)	A549S	probably damaging	Het
Gnat1	A	T	9: 107,553,511 (GRCm39)	I249N		Het
Gp2	T	C	7: 119,053,433 (GRCm39)	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,277,248 (GRCm39)	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,610,397 (GRCm39)	E21V	probably damaging	Het
Igkv4-80	T	A	6: 68,993,793 (GRCm39)	M33L	probably benign	Het
Il20ra	C	A	10: 19,618,751 (GRCm39)	H66Q	probably benign	Het
Kap	C	T	6: 133,828,950 (GRCm39)	D61N	probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mpp7	A	T	18: 7,461,692 (GRCm39)	Y60*	probably null	Het
Neil1	T	A	9: 57,051,098 (GRCm39)	R294*	probably null	Het
Nkx6-3	A	G	8: 23,643,778 (GRCm39)	S60G	probably benign	Het
Noc2l	T	A	4: 156,326,130 (GRCm39)	S406T	possibly damaging	Het
Or11m3	T	C	15: 98,396,247 (GRCm39)	V298A	possibly damaging	Het
Or14j2	A	G	17: 37,885,825 (GRCm39)	I163T	probably benign	Het
Or2h2c	A	G	17: 37,422,205 (GRCm39)	V223A	probably damaging	Het
Or2t46	T	C	11: 58,472,104 (GRCm39)	C145R	probably benign	Het
Or51ac3	T	G	7: 103,214,049 (GRCm39)	I146L	probably benign	Het
Or5p81	T	C	7: 108,266,626 (GRCm39)	M1T	probably null	Het
Paqr4	A	G	17: 23,958,939 (GRCm39)	F21L	probably damaging	Het
Pcdha9	A	G	18: 37,131,527 (GRCm39)	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,884,917 (GRCm39)	L29P	probably benign	Het
Pfkl	G	A	10: 77,831,172 (GRCm39)	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,528,041 (GRCm39)	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,274,189 (GRCm39)	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,278,659 (GRCm39)	Y191H	probably damaging	Het
Plod3	G	A	5: 137,023,036 (GRCm39)	V613I	probably benign	Het
Prr23a2	C	T	9: 98,738,921 (GRCm39)	T93I	probably damaging	Het
Ptk6	T	A	2: 180,840,206 (GRCm39)	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,492,432 (GRCm39)		probably null	Het
Ralgapa2	T	C	2: 146,254,058 (GRCm39)	H787R	probably benign	Het
Rfx8	T	G	1: 39,724,669 (GRCm39)	M231L	probably benign	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Smpd4	A	G	16: 17,459,451 (GRCm39)	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,765,740 (GRCm39)	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,743,899 (GRCm39)	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,665,535 (GRCm39)	R758C	probably damaging	Het
Vmn1r210	A	C	13: 23,011,397 (GRCm39)	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,818,714 (GRCm39)	V857I	probably benign	Het
Zfyve9	T	C	4: 108,501,538 (GRCm39)	T593A	probably benign	Het

Other mutations in Gm57859

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Gm57859	APN	11	113,583,296 (GRCm39)	missense	probably benign	0.19
IGL01701:Gm57859	APN	11	113,579,927 (GRCm39)	missense	probably benign	0.27
R0483:Gm57859	UTSW	11	113,580,021 (GRCm39)	missense	possibly damaging	0.92
R0601:Gm57859	UTSW	11	113,578,712 (GRCm39)	missense	probably benign	0.38
R1567:Gm57859	UTSW	11	113,578,728 (GRCm39)	missense	probably damaging	0.99
R4834:Gm57859	UTSW	11	113,579,805 (GRCm39)	missense	probably benign	0.03
R4923:Gm57859	UTSW	11	113,579,805 (GRCm39)	missense	probably benign	0.03
R5194:Gm57859	UTSW	11	113,579,654 (GRCm39)	missense	possibly damaging	0.83
R5779:Gm57859	UTSW	11	113,578,818 (GRCm39)	missense	probably benign	0.02
R5815:Gm57859	UTSW	11	113,578,783 (GRCm39)	splice site	probably null
R6174:Gm57859	UTSW	11	113,579,801 (GRCm39)	missense	possibly damaging	0.46
R6566:Gm57859	UTSW	11	113,578,824 (GRCm39)	missense	probably damaging	0.96
R6837:Gm57859	UTSW	11	113,579,439 (GRCm39)	missense	possibly damaging	0.90
R6974:Gm57859	UTSW	11	113,578,818 (GRCm39)	missense	probably benign	0.02
R7497:Gm57859	UTSW	11	113,583,223 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCTTAGCCCTGCTGTCTATTG -3'
(R):5'- GCAGAGACCTTTAACGGACTC -3'

Sequencing Primer
(F):5'- GCCCTGCTGTCTATTGAATTAACATG -3'
(R):5'- GAGACCTTTAACGGACTCCACAG -3'

Posted On

2022-05-16