Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Gm14085'

226307

Institutional Source

Beutler Lab

Gene Symbol

Gm14085

Ensembl Gene

ENSMUSG00000079071

Gene Name

predicted gene 14085

Synonyms

MMRRC Submission

040057-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122484941-122528040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122522868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 510 (S510P)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

probably benign
Transcript: ENSMUST00000110521
AA Change: S510P

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: S510P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,486,058	I44T	possibly damaging	Het
Agap2	G	T	10: 127,080,261	E214*	probably null	Het
Angpt2	G	T	8: 18,705,657	P265T	probably benign	Het
Apc2	C	A	10: 80,307,609		probably null	Het
Arpc1b	C	T	5: 145,125,919	P250S	probably damaging	Het
Atxn10	T	G	15: 85,365,312	V115G	probably benign	Het
Bace2	T	A	16: 97,412,136	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,309,604	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,409,474	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,469,586	I104L	probably damaging	Het
Cdh6	T	A	15: 13,057,501	M245L	probably benign	Het
Celsr1	A	C	15: 86,030,547	V1075G	probably benign	Het
Cfap61	T	C	2: 146,145,473	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Colgalt1	T	C	8: 71,617,686		probably null	Het
Ctnnal1	A	T	4: 56,835,350	V309D	probably benign	Het
D7Ertd443e	T	A	7: 134,266,798	E659D	probably damaging	Het
Dab2	T	C	15: 6,435,215	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,752,562	L3099P	probably damaging	Het
Frem3	A	G	8: 80,614,891	E1271G	probably damaging	Het
Grap2	A	G	15: 80,646,243	H188R	probably benign	Het
Grin2c	T	C	11: 115,257,419	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,335,436	M119T	probably damaging	Het
Hsd11b2	A	G	8: 105,523,360	I368V	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,619,470	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,318,865	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,872,589	S649L	probably damaging	Het
Map2	T	C	1: 66,414,314	S788P	probably damaging	Het
Mast4	T	C	13: 102,751,409	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,612,825		probably null	Het
Myo5a	G	A	9: 75,146,874	E355K	probably benign	Het
Myo9b	T	A	8: 71,290,550	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,292,964		probably null	Het
Nlrx1	A	T	9: 44,262,780	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,417,451		probably null	Het
Plch2	A	G	4: 155,000,818	M272T	probably benign	Het
Plk4	T	A	3: 40,810,380	M603K	probably benign	Het
Rfx7	T	A	9: 72,617,466	V646E	probably benign	Het
Slc9a1	A	G	4: 133,416,334	H377R	probably benign	Het
Snrnp70	A	C	7: 45,387,300	Y61*	probably null	Het
Spatc1l	T	C	10: 76,564,058	L138P	probably damaging	Het
Spink5	T	C	18: 44,007,758		probably null	Het
Sptan1	T	A	2: 30,002,238	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,685,120	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,529,247	V17I	probably damaging	Het
Tmem129	C	A	5: 33,657,782	A16S	probably benign	Het
Tmtc1	T	C	6: 148,262,883	E584G	probably damaging	Het
Trank1	C	A	9: 111,364,788	H627N	probably damaging	Het
Trio	T	C	15: 27,851,945	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,998,084	N98K	probably damaging	Het
Ube4b	A	T	4: 149,344,612	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,472,022	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,624,473	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,609,612		probably null	Het
Zfyve9	A	C	4: 108,718,603	M427R	probably benign	Het
Zfyve9	A	T	4: 108,719,303	F194I	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTTTCCCTGACCCTCAGTAAG -3'
(R):5'- ATGCATAGGCTGGGACACTG -3'

Sequencing Primer
(F):5'- CTAGGTGTCTGGAGCAGCTC -3'
(R):5'- GGACACTGAGAAACATTTGCAGTCC -3'

Posted On

2014-09-17