Mutagenetix > Incidental Mutation

Incidental Mutation 'R3940:Gm14393'

307401

Institutional Source

Beutler Lab

Gene Symbol

Gm14393

Ensembl Gene

ENSMUSG00000078905

Gene Name

predicted gene 14393

Synonyms

MMRRC Submission

040922-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3940 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

174903342-174909574 bp(-) (GRCm39)

Type of Mutation

splice site (1679 bp from exon)

DNA Base Change (assembly)

T to C at 174903420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072895] [ENSMUST00000109066]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000072895

SMART Domains

Protein: ENSMUSP00000072668
Gene: ENSMUSG00000078905

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
ZnF_C2H2	103	125	8.47e-4	SMART
ZnF_C2H2	131	153	9.22e-5	SMART
ZnF_C2H2	159	181	1.03e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109066

SMART Domains

Protein: ENSMUSP00000104694
Gene: ENSMUSG00000078905

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122320

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (35/37)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Acsm3	A	G	7: 119,373,109 (GRCm39)	E204G	probably benign	Het
Acta2	A	T	19: 34,220,880 (GRCm39)	I276N	possibly damaging	Het
Ankrd16	T	C	2: 11,789,192 (GRCm39)	C260R	probably benign	Het
Ankrd42	T	C	7: 92,240,996 (GRCm39)		probably null	Het
Atp13a2	T	C	4: 140,733,733 (GRCm39)	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Calm5	A	T	13: 3,904,485 (GRCm39)	I37F	possibly damaging	Het
Casq1	A	G	1: 172,047,103 (GRCm39)	V52A	possibly damaging	Het
Col22a1	A	T	15: 71,853,782 (GRCm39)	L260*	probably null	Het
Cttnbp2	C	A	6: 18,420,974 (GRCm39)	V846L	probably benign	Het
Dnah12	A	G	14: 26,444,754 (GRCm39)	T627A	probably benign	Het
Eogt	T	C	6: 97,090,875 (GRCm39)	I421M	probably damaging	Het
Fam135a	T	A	1: 24,096,556 (GRCm39)	H63L	probably damaging	Het
Fmo3	T	A	1: 162,791,555 (GRCm39)	T241S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Kcna5	C	T	6: 126,510,614 (GRCm39)	V505I	probably damaging	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Or7a41	T	A	10: 78,871,038 (GRCm39)	I136N	probably damaging	Het
Or8k40	T	A	2: 86,584,275 (GRCm39)	D269V	possibly damaging	Het
Pcdhb7	T	C	18: 37,477,021 (GRCm39)	L719P	probably damaging	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Pik3ip1	A	G	11: 3,281,987 (GRCm39)	N48S	probably damaging	Het
Pkn2	G	A	3: 142,499,672 (GRCm39)	S951L	probably damaging	Het
Prrc2a	T	C	17: 35,376,474 (GRCm39)	H772R	possibly damaging	Het
Ric1	T	C	19: 29,548,162 (GRCm39)	Y277H	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf123	A	T	9: 107,941,234 (GRCm39)		probably benign	Het
Robo1	T	C	16: 72,806,631 (GRCm39)	S1166P	probably benign	Het
S100a10	A	G	3: 93,468,383 (GRCm39)	E38G	probably benign	Het
Slc34a1	A	T	13: 55,560,983 (GRCm39)	I483F	probably damaging	Het
Stim1	A	G	7: 102,084,848 (GRCm39)	N600S	probably benign	Het
Ube3c	T	A	5: 29,824,358 (GRCm39)	N517K	probably benign	Het

Other mutations in Gm14393

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:Gm14393	APN	2	174,903,595 (GRCm39)	missense	possibly damaging	0.53
IGL03049:Gm14393	APN	2	174,903,581 (GRCm39)	missense	probably damaging	1.00
FR4340:Gm14393	UTSW	2	174,903,427 (GRCm39)	missense	possibly damaging	0.48
FR4976:Gm14393	UTSW	2	174,903,613 (GRCm39)	missense	probably benign
R1470:Gm14393	UTSW	2	174,905,774 (GRCm39)	missense	probably damaging	1.00
R1470:Gm14393	UTSW	2	174,905,774 (GRCm39)	missense	probably damaging	1.00
R4214:Gm14393	UTSW	2	174,903,640 (GRCm39)	missense	probably benign	0.00
R4585:Gm14393	UTSW	2	174,904,497 (GRCm39)	unclassified	probably benign
R4586:Gm14393	UTSW	2	174,904,497 (GRCm39)	unclassified	probably benign
R5431:Gm14393	UTSW	2	174,905,669 (GRCm39)	missense	probably damaging	0.97
R5553:Gm14393	UTSW	2	174,903,639 (GRCm39)	nonsense	probably null
R5942:Gm14393	UTSW	2	174,903,689 (GRCm39)	nonsense	probably null
R6497:Gm14393	UTSW	2	174,903,427 (GRCm39)	missense	possibly damaging	0.48
R7154:Gm14393	UTSW	2	174,903,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAATCCTTCCTGCAAAGGC -3'
(R):5'- AGCCTTTGCATATGAGAGTTGTAG -3'

Sequencing Primer
(F):5'- CTGCAAAGGCTTTACCACATTGG -3'
(R):5'- ACCATGACTGTAACCAATGTGG -3'

Posted On

2015-04-17