Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:Gm14412'

328551

Institutional Source

Beutler Lab

Gene Symbol

Gm14412

Ensembl Gene

ENSMUSG00000078868

Gene Name

predicted gene 14412

Synonyms

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R4430 (G1)

Quality Score

100

Status

Not validated

Chromosome

Chromosomal Location

177314520-177324307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 177315832 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 90 (S90I)

Ref Sequence

ENSEMBL: ENSMUSP00000104587 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108959
AA Change: S90I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: S90I

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in Gm14412

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm14412	APN	2	177315686	missense	probably benign
R0124:Gm14412	UTSW	2	177315912	splice site	probably benign
R0507:Gm14412	UTSW	2	177314532	missense	possibly damaging	0.46
R1833:Gm14412	UTSW	2	177315790	missense	probably benign	0.00
R1908:Gm14412	UTSW	2	177315476	missense	probably damaging	1.00
R1908:Gm14412	UTSW	2	177315837	missense	probably benign	0.03
R2026:Gm14412	UTSW	2	177317105	missense	possibly damaging	0.92
R2209:Gm14412	UTSW	2	177317436	missense	probably damaging	1.00
R2656:Gm14412	UTSW	2	177315200	missense	unknown
R3946:Gm14412	UTSW	2	177314685	nonsense	probably null
R4537:Gm14412	UTSW	2	177314559	missense	probably benign	0.06
R4595:Gm14412	UTSW	2	177315212	missense	unknown
R4928:Gm14412	UTSW	2	177314580	missense	probably benign	0.01
R5100:Gm14412	UTSW	2	177315115	missense	probably damaging	0.99
R5434:Gm14412	UTSW	2	177314612	missense	probably damaging	1.00
R5668:Gm14412	UTSW	2	177315609	nonsense	probably null
R6173:Gm14412	UTSW	2	177314537	missense	probably damaging	1.00
R6558:Gm14412	UTSW	2	177314554	missense	probably damaging	0.99
R6784:Gm14412	UTSW	2	177317340	missense	probably benign	0.10
R7094:Gm14412	UTSW	2	177317345	missense	probably damaging	1.00
R7182:Gm14412	UTSW	2	177315615	missense	probably benign	0.44
R7254:Gm14412	UTSW	2	177317396	missense	probably damaging	0.97
R7793:Gm14412	UTSW	2	177315867	missense	possibly damaging	0.78
R7799:Gm14412	UTSW	2	177315797	missense	probably benign	0.01
RF001:Gm14412	UTSW	2	177317101	missense	probably benign	0.04
RF007:Gm14412	UTSW	2	177315701	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TCTGCAAAGGCTTTACCACATT -3'
(R):5'- CATTTGATTGCTCTTTTCAATGAAACC -3'

Sequencing Primer
(F):5'- AGGTCACAGTTTCTTGCAAAGGC -3'
(R):5'- GTATTTGTAGGCATGAAAGAAG -3'

Posted On

2015-07-21