Mutagenetix > Incidental Mutation

Incidental Mutation 'R8546:Gm14085'

659616

Institutional Source

Beutler Lab

Gene Symbol

Gm14085

Ensembl Gene

ENSMUSG00000079071

Gene Name

predicted gene 14085

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122484941-122528040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122522754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 472 (M472L)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110521]

AlphaFold

A2AWR5

Predicted Effect

probably benign
Transcript: ENSMUST00000110521
AA Change: M472L

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: M472L

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	149	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	253	2.3e-28	PFAM
Pfam:Gate	260	360	1.7e-10	PFAM
Pfam:Nucleos_tra2_C	363	587	4.6e-70	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	G	11: 101,990,861	R77G	probably damaging	Het
Acot1	T	C	12: 84,017,365	S416P	probably benign	Het
Adcy9	G	T	16: 4,418,905	A214E	probably benign	Het
Atp11a	T	A	8: 12,851,083	W971R	probably damaging	Het
Axl	C	T	7: 25,774,163	R346H	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Cabin1	T	C	10: 75,742,267	D532G	probably damaging	Het
Cdh20	A	G	1: 104,934,044		probably benign	Het
Clca3b	T	A	3: 144,827,397	S625C	probably damaging	Het
Col3a1	G	A	1: 45,340,939		probably benign	Het
Ctu2	T	C	8: 122,479,363	L281P	probably damaging	Het
Cyb5a	G	A	18: 84,871,634		probably null	Het
Cyb5rl	T	A	4: 107,068,726	V35D	probably damaging	Het
Dnah17	A	G	11: 118,124,275	F381S	probably benign	Het
Eif3a	A	T	19: 60,766,770	N991K	unknown	Het
Eif6	A	G	2: 155,826,500		probably benign	Het
Fahd1	T	C	17: 24,850,083	M7V	possibly damaging	Het
Fam171b	A	G	2: 83,855,451	T160A	probably damaging	Het
Fnip1	A	G	11: 54,510,000	E1075G	probably benign	Het
Fras1	G	A	5: 96,709,966	V2040I	probably benign	Het
Gjc2	G	T	11: 59,176,356	D433E	unknown	Het
Hist1h2bl	G	A	13: 21,715,872	T91M	probably damaging	Het
Igsf9b	T	C	9: 27,333,130	S794P	possibly damaging	Het
Irx6	A	T	8: 92,678,636	R377S	probably benign	Het
Khnyn	A	G	14: 55,885,818	T10A	probably benign	Het
Kmt2e	A	T	5: 23,481,244	H389L	probably damaging	Het
Lin7c	A	G	2: 109,896,371	I122V	probably null	Het
Lonp1	G	A	17: 56,626,702	P58S	probably benign	Het
Loxl4	T	C	19: 42,607,588	H142R	probably benign	Het
Mcm6	C	T	1: 128,345,948	E382K	possibly damaging	Het
Mettl2	T	A	11: 105,131,573	N196K	probably benign	Het
Myo7b	T	C	18: 31,990,148	E712G	probably benign	Het
Ncam2	C	T	16: 81,517,531	T465I	probably benign	Het
Olfr860	T	A	9: 19,846,389	T77S	probably damaging	Het
Padi4	T	C	4: 140,757,530	E340G	probably damaging	Het
Patj	T	A	4: 98,437,397	S490R	probably benign	Het
Pkd1l3	G	A	8: 109,666,983	S1981N	possibly damaging	Het
Poll	T	A	19: 45,557,977	D208V	probably damaging	Het
Polr3f	A	G	2: 144,532,364	D64G	probably damaging	Het
Prkdc	A	G	16: 15,663,035	Y340C	probably damaging	Het
Prmt6	C	T	3: 110,250,718	R85Q	possibly damaging	Het
Rgl3	T	C	9: 21,987,860	K140R	probably benign	Het
Rhoj	A	G	12: 75,375,350	T61A	probably benign	Het
Skor1	T	C	9: 63,142,288	D795G	probably damaging	Het
Tekt5	A	G	16: 10,358,013	V556A	probably benign	Het
Tlr1	T	A	5: 64,927,031	I68F	probably damaging	Het
Tnni3k	G	T	3: 154,792,807	N798K	probably benign	Het
Tuft1	T	A	3: 94,622,113	E227D	probably benign	Het
Tulp1	T	C	17: 28,363,736	K146R	probably benign	Het
Uhrf1bp1l	A	G	10: 89,794,535	N399S	probably damaging	Het
Usp24	G	A	4: 106,402,129	A1616T	probably benign	Het
Ythdc1	A	T	5: 86,826,748	K452N	possibly damaging	Het
Zscan4-ps3	T	A	7: 11,612,770	H244Q	possibly damaging	Het

Other mutations in Gm14085

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Gm14085	APN	2	122517046	missense	probably damaging	0.98
IGL01160:Gm14085	APN	2	122524796	critical splice acceptor site	probably null
IGL01838:Gm14085	APN	2	122517983	missense	possibly damaging	0.65
IGL01895:Gm14085	APN	2	122525091	missense	possibly damaging	0.75
IGL02999:Gm14085	APN	2	122514514	splice site	probably benign
Wilted	UTSW	2	122523482	missense	probably damaging	1.00
K2124:Gm14085	UTSW	2	122525153	missense	probably benign	0.00
R0084:Gm14085	UTSW	2	122522833	missense	possibly damaging	0.95
R0092:Gm14085	UTSW	2	122517597	splice site	probably benign
R0127:Gm14085	UTSW	2	122517069	critical splice donor site	probably null
R0200:Gm14085	UTSW	2	122527447	makesense	probably null
R0276:Gm14085	UTSW	2	122521928	missense	probably damaging	1.00
R0309:Gm14085	UTSW	2	122517553	missense	probably benign	0.04
R0403:Gm14085	UTSW	2	122521854	missense	probably damaging	1.00
R0600:Gm14085	UTSW	2	122514398	missense	probably damaging	0.97
R0612:Gm14085	UTSW	2	122521698	missense	probably damaging	1.00
R1676:Gm14085	UTSW	2	122521859	missense	probably damaging	0.99
R1801:Gm14085	UTSW	2	122521652	missense	possibly damaging	0.57
R1986:Gm14085	UTSW	2	122527429	missense	probably benign	0.00
R2050:Gm14085	UTSW	2	122522868	missense	probably benign	0.21
R3078:Gm14085	UTSW	2	122514414	missense	possibly damaging	0.63
R4075:Gm14085	UTSW	2	122514411	missense	probably benign	0.00
R4096:Gm14085	UTSW	2	122522728	missense	probably damaging	1.00
R4744:Gm14085	UTSW	2	122522805	nonsense	probably null
R4796:Gm14085	UTSW	2	122514459	missense	probably damaging	0.99
R5033:Gm14085	UTSW	2	122522914	critical splice donor site	probably null
R5069:Gm14085	UTSW	2	122494373	missense	possibly damaging	0.93
R5288:Gm14085	UTSW	2	122522778	missense	probably benign	0.01
R5385:Gm14085	UTSW	2	122522778	missense	probably benign	0.01
R5386:Gm14085	UTSW	2	122522778	missense	probably benign	0.01
R5442:Gm14085	UTSW	2	122486869	missense	probably benign
R5795:Gm14085	UTSW	2	122517994	missense	possibly damaging	0.79
R6258:Gm14085	UTSW	2	122523482	missense	probably damaging	1.00
R6260:Gm14085	UTSW	2	122523482	missense	probably damaging	1.00
R6383:Gm14085	UTSW	2	122524807	missense	probably benign	0.00
R7226:Gm14085	UTSW	2	122522532	missense	probably benign	0.00
R7574:Gm14085	UTSW	2	122522844	missense	not run
R7633:Gm14085	UTSW	2	122486680	missense	probably null	0.05
R7705:Gm14085	UTSW	2	122521629	critical splice acceptor site	probably null
R7726:Gm14085	UTSW	2	122486733	missense	probably damaging	0.99
R7998:Gm14085	UTSW	2	122494358	missense	probably damaging	0.97
R8269:Gm14085	UTSW	2	122521688	missense	probably damaging	1.00
R8337:Gm14085	UTSW	2	122525136	missense	probably benign	0.06
R8817:Gm14085	UTSW	2	122518507	missense	possibly damaging	0.95
R8931:Gm14085	UTSW	2	122518502	missense
R9070:Gm14085	UTSW	2	122521673	missense	probably damaging	1.00
R9542:Gm14085	UTSW	2	122494341	missense	probably benign	0.26
R9702:Gm14085	UTSW	2	122523531	missense	probably damaging	1.00
R9782:Gm14085	UTSW	2	122521857	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGCATGTTTCCCTGACC -3'
(R):5'- TTAGATATGCCTGGCCCAAACC -3'

Sequencing Primer
(F):5'- CCCTGACCCTCAGTAAGCTG -3'
(R):5'- GTAATTCGCTGGATTGTCACTTACAG -3'

Posted On

2021-01-18