Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Gm14085'

265274

Institutional Source

Beutler Lab

Gene Symbol

Gm14085

Ensembl Gene

ENSMUSG00000079071

Gene Name

predicted gene 14085

Synonyms

MMRRC Submission

040568-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122484941-122528040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122514414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 167 (L167P)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110521
AA Change: L167P

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: L167P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	G	C	5: 24,546,666	T528S	probably benign	Het
Abca12	T	C	1: 71,267,605	I1981V	probably benign	Het
Actr3b	A	G	5: 25,822,442	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,129,105	I248F	probably benign	Het
Alg10b	T	C	15: 90,227,936	S328P	probably benign	Het
C5ar2	G	A	7: 16,237,424	R193C	probably damaging	Het
Cct8	A	G	16: 87,488,877	V231A	possibly damaging	Het
Clca4a	C	T	3: 144,968,253	M240I	probably damaging	Het
Cmya5	A	T	13: 93,048,927	I3520N	probably damaging	Het
Dock6	G	T	9: 21,845,754		probably benign	Het
Dynlrb1	T	A	2: 155,249,945	I99N	probably damaging	Het
Ebf4	G	A	2: 130,306,499	D77N	probably damaging	Het
Fam196a	A	G	7: 134,918,021	I260T	probably benign	Het
Fbxw10	C	T	11: 62,867,513		probably benign	Het
Gm10801	T	C	2: 98,663,852	I113T	probably damaging	Het
Gm5499	T	C	17: 87,078,886		noncoding transcript	Het
Gm9913	A	G	2: 125,506,539		probably benign	Het
Herc2	A	G	7: 56,137,243	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,386,001	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,503,124		probably null	Het
Kif14	T	G	1: 136,519,645	I1396S	possibly damaging	Het
Med28	A	G	5: 45,522,478	T68A	possibly damaging	Het
Meis1	A	T	11: 19,011,254	N206K	probably benign	Het
Mfsd14a	T	C	3: 116,647,917		probably benign	Het
Mnt	G	C	11: 74,843,110		probably benign	Het
Mto1	A	G	9: 78,458,028	Y413C	probably damaging	Het
Myo7b	T	C	18: 31,967,184	D1599G	probably benign	Het
Myoz1	T	C	14: 20,653,617		probably benign	Het
Nhsl2	C	T	X: 102,077,595	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,260,416	C274G	probably damaging	Het
Olfr204	A	T	16: 59,314,726	M227K	probably benign	Het
Olfr389	G	A	11: 73,776,640	P229L	possibly damaging	Het
Phldb2	T	C	16: 45,825,010	T403A	probably benign	Het
Plaa	T	C	4: 94,569,805	I643V	probably benign	Het
Stau1	T	C	2: 166,955,016	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,632	I221V	probably benign	Het
Wdr93	T	C	7: 79,752,493	I180T	possibly damaging	Het
Whamm	G	C	7: 81,571,784	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,513,183	Y41*	probably null	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
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'- AGATCATTCTCAAGGTTCCTCTCTG -3'
(R):5'- GAGCTGTCAGGAGAAGATTCCG -3'

Sequencing Primer
(F):5'- GTTCCTCTCTGTGTAATGAATAAGCC -3'
(R):5'- TTATGATGAGTACCTGACATGGGCAC -3'

Posted On

2015-02-05