Mutagenetix > Incidental Mutations

Incidental Mutation 'R3970:Gm14401'

310911

Institutional Source

Beutler Lab

Gene Symbol

Gm14401

Ensembl Gene

ENSMUSG00000078872

Gene Name

predicted gene 14401

Synonyms

MMRRC Submission

040938-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R3970 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

177074320-177087347 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177086996 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 292 (Y292H)

Ref Sequence

ENSEMBL: ENSMUSP00000119549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108968] [ENSMUST00000108970] [ENSMUST00000134614]

Predicted Effect

probably benign
Transcript: ENSMUST00000108968

SMART Domains

Protein: ENSMUSP00000104596
Gene: ENSMUSG00000078872

Domain	Start	End	E-Value	Type
KRAB	4	64	1.21e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108969

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108970
AA Change: Y292H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104598
Gene: ENSMUSG00000078872
AA Change: Y292H

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
Pfam:zf-C2H2_4	69	98	4.5e-2	PFAM
ZnF_C2H2	103	125	2.09e-3	SMART
ZnF_C2H2	131	153	6.88e-4	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	2.91e-2	SMART
ZnF_C2H2	243	265	1.21e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121260

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134614
AA Change: Y292H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119549
Gene: ENSMUSG00000078872
AA Change: Y292H

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
ZnF_C2H2	103	125	2.09e-3	SMART
ZnF_C2H2	131	153	6.88e-4	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	2.91e-2	SMART
ZnF_C2H2	243	265	1.21e2	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,322	M583T	probably damaging	Het
Actn4	T	C	7: 28,962,032	K51R	probably benign	Het
Adamts15	T	C	9: 30,910,602	Y513C	probably benign	Het
Akap13	T	A	7: 75,569,951	L34*	probably null	Het
Akap6	A	T	12: 53,141,453	K1883N	probably damaging	Het
Ano1	T	C	7: 144,607,963	N749D	probably benign	Het
Armcx6	G	T	X: 134,749,756	H109N	possibly damaging	Het
Camk4	T	A	18: 33,179,581	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,726,458	N781I	probably damaging	Het
Cherp	T	C	8: 72,469,951	H196R	possibly damaging	Het
Chia1	T	G	3: 106,121,635		probably null	Het
Col11a1	A	T	3: 114,097,189	T392S	unknown	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Csf2rb	T	C	15: 78,341,467	V286A	probably benign	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Fam196b	A	T	11: 34,419,739	Q481L	probably damaging	Het
Fcho2	A	T	13: 98,735,056	S551T	probably benign	Het
Flna	A	T	X: 74,235,667	V1253E	probably damaging	Het
Gm12185	A	T	11: 48,907,345	C774S	probably benign	Het
Kif5c	A	G	2: 49,688,744	E128G	probably damaging	Het
Lama3	A	T	18: 12,580,341	K3230M	probably damaging	Het
Myof	C	T	19: 37,901,263	V1287M	probably damaging	Het
Myof	T	G	19: 38,022,610	D60A	possibly damaging	Het
Myrf	A	G	19: 10,223,237	L332P	probably damaging	Het
Nampt	T	A	12: 32,833,096	D93E	probably benign	Het
Narf	A	T	11: 121,238,421	E10D	possibly damaging	Het
Nlrp6	C	A	7: 140,921,655	A45E	probably damaging	Het
Obscn	G	A	11: 59,051,662	P4898L	probably damaging	Het
Olfr251	T	C	9: 38,377,926	V15A	probably damaging	Het
Pabpc5	A	G	X: 119,928,624	E212G	probably benign	Het
Pcdh8	C	T	14: 79,770,266	G286S	possibly damaging	Het
Pcdha2	C	A	18: 36,940,697	Y460*	probably null	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Pecr	G	A	1: 72,276,309	T94I	probably damaging	Het
Piezo2	A	T	18: 63,011,696	V2776E	probably damaging	Het
Pign	A	C	1: 105,656,003	S125A	probably damaging	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Pkd1l1	C	T	11: 8,874,218	E1566K	probably damaging	Het
Plcb2	A	G	2: 118,715,690		probably benign	Het
Ppl	T	C	16: 5,100,332		probably null	Het
Pramel4	A	T	4: 144,068,474	N477I	possibly damaging	Het
Psd	C	T	19: 46,324,406	R175H	probably benign	Het
Sema3g	T	C	14: 31,226,521		probably null	Het
Sf3b1	G	A	1: 55,012,182	R196*	probably null	Het
Slc26a4	G	T	12: 31,528,687	H656N	probably damaging	Het
Slc6a7	A	C	18: 61,003,345	L328R	possibly damaging	Het
Stab2	T	C	10: 86,878,886	T139A	probably damaging	Het
Tiam2	T	A	17: 3,428,831	I613N	probably damaging	Het
Tlk1	A	G	2: 70,716,652	V695A	probably damaging	Het
Trpc2	A	G	7: 102,084,324	D160G	probably damaging	Het
Uhrf2	T	C	19: 30,079,915	V491A	probably damaging	Het
Vwa7	G	A	17: 35,017,708	A84T	probably damaging	Het
Zfp219	T	A	14: 52,006,964	Q541L	probably benign	Het

Other mutations in Gm14401

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Gm14401	APN	2	177086832	missense	probably damaging	1.00
FR4548:Gm14401	UTSW	2	177086868	missense	probably benign
R1289:Gm14401	UTSW	2	177086996	missense	possibly damaging	0.76
R3967:Gm14401	UTSW	2	177086996	missense	possibly damaging	0.76
R3968:Gm14401	UTSW	2	177086996	missense	possibly damaging	0.76
R4476:Gm14401	UTSW	2	177086777	nonsense	probably null
R4627:Gm14401	UTSW	2	177086316	missense	probably benign
R4897:Gm14401	UTSW	2	177086780	missense	probably damaging	1.00
R5245:Gm14401	UTSW	2	177086678	missense	probably damaging	0.99
R5660:Gm14401	UTSW	2	177086431	missense	probably damaging	0.96
R5834:Gm14401	UTSW	2	177086903	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGCATATGAGAGTTGTAGTCAAAGG -3'
(R):5'- CTCTCAACTATATGTGCTTTTATGTGT -3'

Sequencing Primer
(F):5'- CCAATGTGGAAAAGCCTTTGC -3'
(R):5'- ATGTGTGTAAAGACTATTGGTTTTCG -3'

Posted On

2015-04-29