Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Gm14085'

589743

Institutional Source

Beutler Lab

Gene Symbol

Gm14085

Ensembl Gene

ENSMUSG00000079071

Gene Name

predicted gene 14085

Synonyms

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122484941-122528040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122486680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 7 (R7S)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

probably null
Transcript: ENSMUST00000110521
AA Change: R7S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: R7S

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	C	A	11: 58,447,478	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Acaca	A	G	11: 84,372,639	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399		probably null	Het
C530008M17Rik	A	G	5: 76,857,520	E576G	unknown	Het
Cd46	A	T	1: 195,083,619	M146K	probably null	Het
Chp1	A	G	2: 119,560,745	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453	L88R	probably benign	Het
Dedd	C	T	1: 171,338,910	P138L	probably benign	Het
Degs1	A	G	1: 182,279,698	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908	T121M	possibly damaging	Het
Gm21731	G	A	13: 120,240,840	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399		probably benign	Het
Ikbkb	T	C	8: 22,671,741	N377S	probably benign	Het
Intu	G	A	3: 40,654,253	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,956,151	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,552,436	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654	A200V	probably damaging	Het
Qrich2	A	T	11: 116,456,629	I1123K	unknown	Het
Rgs1	A	G	1: 144,248,477		probably null	Het
Skint7	T	A	4: 111,984,140	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042		probably null	Het
Slco1a6	A	T	6: 142,145,755	I73N	probably damaging	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Spock2	G	A	10: 60,126,180	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006		probably null	Het
Tyw5	A	T	1: 57,393,485	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,425,089	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,318,996	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824	F240L	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
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
R8546:Gm14085	UTSW	2	122522754	missense	probably benign	0.14
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'- AAAGTTCCTCCCAGACTTCTTG -3'
(R):5'- TCTTTGCGCAAGATTTCCAC -3'

Sequencing Primer
(F):5'- ACAAGAAATCAAATTCTGCCTTTTG -3'
(R):5'- CCTTCCTACAAGCACAGGTAAATATG -3'

Posted On

2019-10-24