Mutagenetix > Incidental Mutation

Incidental Mutation 'R8269:Gm14085'

639480

Institutional Source

Beutler Lab

Gene Symbol

Gm14085

Ensembl Gene

ENSMUSG00000079071

Gene Name

predicted gene 14085

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122484941-122528040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122521688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 336 (H336Y)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

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

AlphaFold

A2AWR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110521
AA Change: H336Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: H336Y

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,246,325	T489A	probably benign	Het
Adgra3	A	T	5: 49,963,737	C850S	probably damaging	Het
Ago3	T	A	4: 126,376,928	K258*	probably null	Het
Akap11	G	A	14: 78,513,378	T523I		Het
Amigo2	G	T	15: 97,246,231	N103K	possibly damaging	Het
Arfgap3	A	C	15: 83,310,341	S377A	probably benign	Het
Arhgap39	G	T	15: 76,751,742	Q98K	probably benign	Het
Atp1a4	T	C	1: 172,232,325	D779G	probably damaging	Het
Bckdhb	T	C	9: 84,122,364	I388T	probably benign	Het
Ccdc144b	A	T	3: 36,046,713	N103K	possibly damaging	Het
Ccpg1	G	A	9: 73,005,719	R179H	probably damaging	Het
Cd109	A	G	9: 78,665,682	K496R	probably benign	Het
Cnot1	A	G	8: 95,751,761	F979L	probably damaging	Het
Cyb5r1	T	A	1: 134,407,065		probably benign	Het
D130040H23Rik	T	A	8: 69,303,148	S402T	probably benign	Het
Dmtf1	A	T	5: 9,132,500	Y211*	probably null	Het
Dnah6	A	G	6: 73,168,827		probably null	Het
Emc10	G	T	7: 44,491,984	Q227K	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Exosc4	A	T	15: 76,327,532	I14L	probably benign	Het
Fat2	T	C	11: 55,282,709	T2393A	possibly damaging	Het
Flg2	A	T	3: 93,201,880	H405L	possibly damaging	Het
Gin1	T	A	1: 97,783,204	M204K	probably damaging	Het
Gnal	A	G	18: 67,135,622	D193G	possibly damaging	Het
Itpr3	G	T	17: 27,093,284	R554L	possibly damaging	Het
Lipc	A	G	9: 70,820,373	L149P	probably damaging	Het
Lrrc37a	A	G	11: 103,497,898	Y2234H	unknown	Het
Lsm14b	T	C	2: 180,032,614	S317P	probably damaging	Het
Mapk4	G	C	18: 73,930,551	F533L	probably damaging	Het
Mgll	T	A	6: 88,813,948	Y183*	probably null	Het
Mrrf	T	A	2: 36,147,961	D81E	possibly damaging	Het
Ncan	T	A	8: 70,107,680	Q879L	probably benign	Het
Nox4	T	G	7: 87,306,722		probably benign	Het
Olfr1179	A	T	2: 88,402,037	V299D	probably damaging	Het
Olfr492	A	T	7: 108,323,569	C36S	probably benign	Het
Pcdhb10	A	G	18: 37,414,009	K713E	probably benign	Het
Phkb	A	G	8: 86,029,582	D835G	probably benign	Het
Pld1	A	G	3: 28,025,239	N63D	probably benign	Het
Pls1	G	T	9: 95,761,970	T491K	probably damaging	Het
Plscr1	A	G	9: 92,263,042	D35G	unknown	Het
Slc3a1	A	G	17: 85,032,554	K180R	probably benign	Het
Suv39h1	G	T	X: 8,071,031	Q129K	probably benign	Het
Tbc1d8	A	G	1: 39,426,088	V73A	probably benign	Het
Tmem161a	T	A	8: 70,181,958	V421E	probably benign	Het
Topbp1	C	A	9: 103,328,593	P810Q	possibly damaging	Het
Ttc28	G	A	5: 111,277,459	V1717M	probably benign	Het
Vmn2r55	T	A	7: 12,670,658	T273S	possibly damaging	Het
Vwa5b2	A	G	16: 20,604,438	D1062G	probably damaging	Het
Zcrb1	A	G	15: 93,397,175	Y27H	probably benign	Het
Zfp128	G	A	7: 12,890,736	G344R	probably 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
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'- AGGAGGCTTTTGTCCACTGG -3'
(R):5'- CAGTTTGGACAGGGCAAGTG -3'

Sequencing Primer
(F):5'- CCACTGGCTGGAAGGGTATGTATC -3'
(R):5'- ACAAGGGGCAGCCATCACTG -3'

Posted On

2020-07-28