Mutagenetix > Incidental Mutations

Incidental Mutation 'R5082:Gm14295'

387172

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

042671-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R5082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

176798612-176811223 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 176807417 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 19 (L19*)

Ref Sequence

ENSEMBL: ENSMUSP00000136320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118012] [ENSMUST00000132883] [ENSMUST00000179435]

Predicted Effect

probably null
Transcript: ENSMUST00000118012
AA Change: L20*

SMART Domains

Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877
AA Change: L20*

Domain	Start	End	E-Value	Type
KRAB	4	64	5.2e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000132883
AA Change: L20*

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: L20*

Domain	Start	End	E-Value	Type
KRAB	4	66	6.97e-14	SMART
ZnF_C2H2	78	97	1.61e2	SMART
ZnF_C2H2	103	125	4.17e-3	SMART
ZnF_C2H2	131	153	1.67e-2	SMART
ZnF_C2H2	159	181	2.27e-4	SMART
ZnF_C2H2	187	209	2.61e-4	SMART
ZnF_C2H2	215	237	5.5e-3	SMART
ZnF_C2H2	243	265	2.4e-3	SMART
ZnF_C2H2	271	293	6.32e-3	SMART
ZnF_C2H2	299	321	4.17e-3	SMART
ZnF_C2H2	327	349	3.21e-4	SMART
ZnF_C2H2	355	377	6.88e-4	SMART
ZnF_C2H2	383	405	9.22e-5	SMART
ZnF_C2H2	411	433	6.88e-4	SMART
ZnF_C2H2	439	461	9.22e-5	SMART
ZnF_C2H2	467	489	1.67e-2	SMART
ZnF_C2H2	495	517	3.16e-3	SMART
ZnF_C2H2	523	545	1.3e-4	SMART
ZnF_C2H2	551	573	1.67e-2	SMART
ZnF_C2H2	579	601	3.16e-3	SMART
ZnF_C2H2	607	629	6.78e-3	SMART
ZnF_C2H2	635	657	4.54e-4	SMART
ZnF_C2H2	663	685	4.54e-4	SMART
ZnF_C2H2	691	713	1.67e-2	SMART
ZnF_C2H2	719	741	3.16e-3	SMART
ZnF_C2H2	747	769	1.38e-3	SMART
ZnF_C2H2	775	797	4.94e-5	SMART
ZnF_C2H2	803	823	8.75e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000179435
AA Change: L19*

SMART Domains

Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877
AA Change: L19*

Domain	Start	End	E-Value	Type
KRAB	3	63	5.2e-13	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,131,868	M1015L	probably benign	Het
Aftph	T	C	11: 20,727,100	S170G	probably damaging	Het
Aox4	C	T	1: 58,231,483	P274S	possibly damaging	Het
Ash1l	G	A	3: 88,966,234	R108Q	probably damaging	Het
Aspm	T	A	1: 139,478,676	L1767*	probably null	Het
Baz2b	T	A	2: 59,901,491	K2068*	probably null	Het
Bcl9	A	T	3: 97,209,902	V492D	probably damaging	Het
Bicc1	G	T	10: 70,940,522	H782Q	probably benign	Het
Cabin1	T	A	10: 75,738,330	I640F	probably damaging	Het
Ccng1	A	G	11: 40,752,188	V144A	possibly damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Ddx1	G	T	12: 13,220,435	C668*	probably null	Het
Dhx58	G	A	11: 100,696,976	S585L	probably benign	Het
Dnttip2	A	T	3: 122,275,941	K268N	probably damaging	Het
Ecd	C	T	14: 20,324,368		probably null	Het
Entpd1	A	G	19: 40,725,029		probably null	Het
Erlin2	T	C	8: 27,033,407	V224A	probably damaging	Het
Exoc3l4	A	G	12: 111,427,990	S515G	probably benign	Het
Fcho1	T	C	8: 71,717,185	D98G	possibly damaging	Het
Fhod1	T	A	8: 105,330,513	D943V	probably damaging	Het
Gm10322	A	T	10: 59,616,268	E69V	possibly damaging	Het
Gm7347	T	A	5: 26,057,374	R50*	probably null	Het
Hesx1	T	C	14: 27,000,774	C19R	probably benign	Het
Hgh1	T	A	15: 76,369,552	F199L	probably benign	Het
Irak2	T	C	6: 113,672,844	F147L	probably damaging	Het
Kif22	G	A	7: 127,033,377	R254C	possibly damaging	Het
Klhl9	A	T	4: 88,721,385	S206R	probably damaging	Het
Maip1	T	C	1: 57,411,851		probably null	Het
Mcm9	T	A	10: 53,538,060	E308V	possibly damaging	Het
Mfsd13b	A	T	7: 120,998,978	N369I	possibly damaging	Het
Mga	T	A	2: 119,903,344	H224Q	probably damaging	Het
Mtss1	A	T	15: 58,971,019	W115R	probably damaging	Het
Myo3b	T	C	2: 70,258,030	V851A	probably benign	Het
Nectin2	A	T	7: 19,738,124	D113E	probably damaging	Het
Notch2	G	A	3: 98,100,374	C480Y	probably damaging	Het
Olfr711	G	A	7: 106,971,664	R227C	probably benign	Het
Olfr922	T	C	9: 38,816,145	I214T	possibly damaging	Het
Pfdn1	G	T	18: 36,404,413	N111K	probably damaging	Het
Pfkl	A	T	10: 77,996,408	V283E	probably damaging	Het
Plbd2	G	T	5: 120,491,184	S305*	probably null	Het
Prom1	T	C	5: 44,000,832		probably null	Het
Ptbp2	T	A	3: 119,752,964	M90L	probably benign	Het
Rai1	G	A	11: 60,185,919	E270K	possibly damaging	Het
Rbbp6	G	A	7: 123,000,702		probably benign	Het
Reln	T	C	5: 21,896,077	M3399V	probably benign	Het
Ros1	T	A	10: 52,163,941	Y318F	possibly damaging	Het
Sh2d2a	A	G	3: 87,851,784	D231G	probably benign	Het
Smn1	T	C	13: 100,137,382		probably benign	Het
Snrnp200	C	T	2: 127,226,370	Q877*	probably null	Het
Taf2	G	T	15: 55,060,045	H279N	probably benign	Het
Tnfaip3	T	C	10: 19,005,284	Y345C	probably damaging	Het
Vmn2r68	C	T	7: 85,233,868	M225I	probably benign	Het
Vps13a	A	T	19: 16,744,893	W352R	probably damaging	Het

Other mutations in Gm14295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1623:Gm14295	UTSW	2	176807364	missense	probably damaging	1.00
R2061:Gm14295	UTSW	2	176810681	nonsense	probably null
R2172:Gm14295	UTSW	2	176811102	missense	possibly damaging	0.48
R2411:Gm14295	UTSW	2	176807413	missense	probably benign	0.29
R4472:Gm14295	UTSW	2	176809593	missense	possibly damaging	0.71
R4949:Gm14295	UTSW	2	176809676	missense	probably damaging	0.99
R5311:Gm14295	UTSW	2	176810672	missense	probably benign	0.00
R5792:Gm14295	UTSW	2	176811014	missense	probably benign	0.10
R6170:Gm14295	UTSW	2	176811144	unclassified	probably benign
R6267:Gm14295	UTSW	2	176808989	nonsense	probably null
R6286:Gm14295	UTSW	2	176809568	missense	possibly damaging	0.52
R6743:Gm14295	UTSW	2	176810627	missense	probably damaging	1.00
R7456:Gm14295	UTSW	2	176809150	missense	possibly damaging	0.95
R7536:Gm14295	UTSW	2	176810929	missense	possibly damaging	0.74
R8049:Gm14295	UTSW	2	176809078	missense	probably benign	0.03
R8126:Gm14295	UTSW	2	176810865	missense	probably benign	0.04
R8209:Gm14295	UTSW	2	176811177	missense	unknown
R8292:Gm14295	UTSW	2	176809558	missense	probably damaging	0.99
R8356:Gm14295	UTSW	2	176809514	missense	probably benign	0.24
R8412:Gm14295	UTSW	2	176809629	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGTCCAACTGTGAAAGACTGG -3'
(R):5'- CCCAGTACCAGAGAAAGTATGTTAC -3'

Sequencing Primer
(F):5'- CTGGATAAAAAGTACTATGTGGGTG -3'
(R):5'- CCATTGAACTTTAAAACCATGAGTG -3'

Posted On

2016-06-06