Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Gm14412'

550341

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

045187-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.639) question?

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 177317345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 39 (N39K)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108959]

AlphaFold

A2ARR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000108959
AA Change: N39K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: N39K

Domain	Start	End	E-Value	Type
KRAB	4	66	1.54e-15	SMART
ZnF_C2H2	103	125	1.12e-3	SMART
ZnF_C2H2	131	153	2.15e-5	SMART
ZnF_C2H2	159	181	5.59e-4	SMART
ZnF_C2H2	187	209	1.98e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	6.52e-5	SMART
ZnF_C2H2	271	293	1.12e-3	SMART
ZnF_C2H2	299	321	5.59e-4	SMART
ZnF_C2H2	327	349	4.87e-4	SMART
ZnF_C2H2	355	377	2.61e-4	SMART
ZnF_C2H2	383	405	9.08e-4	SMART
ZnF_C2H2	411	433	4.87e-4	SMART
ZnF_C2H2	439	461	6.88e-4	SMART
ZnF_C2H2	467	489	4.61e-5	SMART
ZnF_C2H2	495	517	8.02e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,298,610	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,706,338		probably benign	Het
Actn2	A	G	13: 12,309,657	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,646,439	A613E	probably damaging	Het
Atf6b	G	A	17: 34,653,816		probably null	Het
BC048403	A	G	10: 121,740,193	Y73C	possibly damaging	Het
Bub1	T	A	2: 127,821,761	E240V	probably null	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C530008M17Rik	C	T	5: 76,859,032	P1080L	unknown	Het
Ccdc141	C	A	2: 77,041,453	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,274,618		probably null	Het
Cd209g	T	C	8: 4,136,790	F112L	possibly damaging	Het
Cebpe	C	T	14: 54,710,603	R261H	probably damaging	Het
Cfap100	T	C	6: 90,413,454	E68G		Het
Chd9	A	G	8: 90,989,561	N921S	unknown	Het
Chil6	T	C	3: 106,404,170	N98S	probably damaging	Het
Clip1	T	C	5: 123,623,270	K734E	probably benign	Het
Cyp11b2	A	G	15: 74,853,658	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,336	T4418A	probably damaging	Het
Dysf	T	C	6: 84,100,202	V649A	probably benign	Het
Ergic3	G	A	2: 156,016,763	V270M	possibly damaging	Het
Eva1a	C	T	6: 82,092,043	T117I	probably damaging	Het
Fat4	G	A	3: 38,889,874	G972D	probably damaging	Het
Gm5565	T	C	5: 146,158,274	T221A	probably benign	Het
Gnptab	T	G	10: 88,379,504	V29G	possibly damaging	Het
Grem2	T	C	1: 174,836,989	Y98C	probably damaging	Het
Grik2	A	T	10: 49,355,916	I506N	possibly damaging	Het
Has2	T	A	15: 56,681,621	Y195F	probably damaging	Het
Lars2	T	C	9: 123,459,585	L832P	probably damaging	Het
Lipo5	T	A	19: 33,468,849	E49D	probably damaging	Het
Macc1	T	A	12: 119,450,391	Y767*	probably null	Het
Map2	G	T	1: 66,412,727	E259*	probably null	Het
Mcm9	T	C	10: 53,620,157	D310G	probably damaging	Het
Mink1	C	A	11: 70,610,075		probably null	Het
Mtrr	T	C	13: 68,579,684	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,253,741	I68N	possibly damaging	Het
Olfr1083-ps	T	C	2: 86,607,328	N81S	unknown	Het
Olfr1243	A	T	2: 89,527,558	I284K	probably damaging	Het
Olfr374	A	T	8: 72,109,503		probably benign	Het
Olfr484	G	T	7: 108,124,633	T210N	probably benign	Het
Olfr560	A	G	7: 102,753,098	M277T	probably benign	Het
Pcdh17	A	G	14: 84,447,395	D434G	probably damaging	Het
Rnf213	T	A	11: 119,437,604		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sez6l2	A	G	7: 126,952,924	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,913,118	S24G	probably benign	Het
Slc39a2	G	T	14: 51,893,689		probably benign	Het
Slitrk5	C	T	14: 111,680,836	P631S	probably benign	Het
Taf2	A	G	15: 55,060,086	V265A	probably benign	Het
Tas2r106	T	C	6: 131,678,579	N103S	probably benign	Het
Tgm1	T	C	14: 55,704,843	T684A	possibly damaging	Het
Tgm7	C	T	2: 121,099,008	G262S	probably damaging	Het
Tpp2	T	A	1: 43,968,988	S451T	probably damaging	Het
Trim15	T	C	17: 36,862,896	Y240C	probably benign	Het
Trio	A	T	15: 27,891,448	C465S	unknown	Het
Ttc22	G	A	4: 106,635,907	W250*	probably null	Het
Upb1	C	A	10: 75,438,208	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,379,311	M419K	probably benign	Het
Vstm2a	G	A	11: 16,257,990		probably benign	Het
Zfp820	T	C	17: 21,819,265	T361A	probably benign	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177,315,686 (GRCm38)	missense	probably benign
R0124:Gm14412	UTSW	2	177,315,912 (GRCm38)	splice site	probably benign
R0507:Gm14412	UTSW	2	177,314,532 (GRCm38)	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177,315,790 (GRCm38)	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177,315,837 (GRCm38)	missense	probably benign	0.03
R1908:Gm14412	UTSW	2	177,315,476 (GRCm38)	missense	probably damaging	1.00
R2026:Gm14412	UTSW	2	177,317,105 (GRCm38)	missense	possibly damaging	0.92
R2209:Gm14412	UTSW	2	177,317,436 (GRCm38)	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177,315,200 (GRCm38)	missense	unknown
R3946:Gm14412	UTSW	2	177,314,685 (GRCm38)	nonsense	probably null
R4430:Gm14412	UTSW	2	177,315,832 (GRCm38)	missense	probably benign	0.09
R4537:Gm14412	UTSW	2	177,314,559 (GRCm38)	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177,315,212 (GRCm38)	missense	unknown
R4928:Gm14412	UTSW	2	177,314,580 (GRCm38)	missense	probably benign	0.01
R5100:Gm14412	UTSW	2	177,315,115 (GRCm38)	missense	probably damaging	0.99
R5434:Gm14412	UTSW	2	177,314,612 (GRCm38)	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177,315,609 (GRCm38)	nonsense	probably null
R6173:Gm14412	UTSW	2	177,314,537 (GRCm38)	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177,314,554 (GRCm38)	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177,317,340 (GRCm38)	missense	probably benign	0.10
R7182:Gm14412	UTSW	2	177,315,615 (GRCm38)	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177,317,396 (GRCm38)	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177,315,867 (GRCm38)	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177,315,797 (GRCm38)	missense	probably benign	0.01
R8238:Gm14412	UTSW	2	177,315,318 (GRCm38)	missense	unknown
R9098:Gm14412	UTSW	2	177,314,563 (GRCm38)	missense	probably damaging	1.00
R9304:Gm14412	UTSW	2	177,315,754 (GRCm38)	missense	probably benign
R9699:Gm14412	UTSW	2	177,315,843 (GRCm38)	nonsense	probably null
RF001:Gm14412	UTSW	2	177,317,101 (GRCm38)	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177,315,701 (GRCm38)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGTTCTTCCCAAATGTAACCTAAACCC -3'
(R):5'- TGTTGTCCAATTGTGAAAGACTGG -3'

Sequencing Primer
(F):5'- CCCAGTACCAGAGAAAGTATGTTAC -3'
(R):5'- GCAGTCAGCGAATATTCATTTTG -3'

Posted On

2019-05-15