Mutagenetix > Incidental Mutation

Incidental Mutation 'R5311:Gm14295'

404835

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

042894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5311 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

176490405-176503016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 176502465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 652 (I652L)

Ref Sequence

ENSEMBL: ENSMUSP00000119262 (fasta)

Gene Model

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

AlphaFold

A2BG91

Predicted Effect

probably benign
Transcript: ENSMUST00000118012

SMART Domains

Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132883
AA Change: I652L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: I652L

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 benign
Transcript: ENSMUST00000179435

SMART Domains

Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	A	G	5: 142,453,442 (GRCm39)	K137E	possibly damaging	Het
Atm	A	C	9: 53,429,923 (GRCm39)	V371G	probably benign	Het
Cacna2d3	A	G	14: 29,068,987 (GRCm39)	Y247H	probably damaging	Het
Ccdc180	T	C	4: 45,917,556 (GRCm39)	V927A	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Edar	G	A	10: 58,443,257 (GRCm39)	P290S	possibly damaging	Het
Ext2	T	C	2: 93,526,606 (GRCm39)	I677V	probably benign	Het
Fam53a	A	G	5: 33,765,080 (GRCm39)	S209P	probably damaging	Het
Fshr	A	T	17: 89,318,441 (GRCm39)		probably null	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gm5431	T	A	11: 48,779,716 (GRCm39)	E402V	probably damaging	Het
Gm6899	GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC	GGAGGCCGCCCAGTGGCAGAGGC	11: 26,543,725 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,115,346 (GRCm39)	D342G	probably benign	Het
Lgi2	A	T	5: 52,711,827 (GRCm39)	D164E	probably damaging	Het
Lrriq1	A	G	10: 103,050,448 (GRCm39)	I768T	probably damaging	Het
Map1a	C	A	2: 121,132,868 (GRCm39)	A990E	probably damaging	Het
Mdh1b	A	G	1: 63,759,163 (GRCm39)	V143A	probably benign	Het
Mrgprb3	C	T	7: 48,293,059 (GRCm39)	C164Y	probably damaging	Het
Mtpap	T	A	18: 4,386,328 (GRCm39)	V316E	probably damaging	Het
Mybpc3	T	A	2: 90,959,023 (GRCm39)	C655*	probably null	Het
Myh15	A	G	16: 48,986,204 (GRCm39)	E1558G	possibly damaging	Het
Mylk	A	G	16: 34,742,127 (GRCm39)	T880A	probably benign	Het
Nckap1	T	A	2: 80,370,466 (GRCm39)	D408V	probably damaging	Het
Nos3	A	T	5: 24,582,343 (GRCm39)	H605L	probably benign	Het
Nrxn2	C	A	19: 6,581,428 (GRCm39)	D411E	probably benign	Het
Or1af1	T	C	2: 37,109,633 (GRCm39)	V44A	probably benign	Het
Or8j3b	T	A	2: 86,205,094 (GRCm39)	I221L	possibly damaging	Het
Pde4d	C	A	13: 109,769,398 (GRCm39)	P29T	probably benign	Het
Pde4d	C	T	13: 109,769,399 (GRCm39)	P29L	probably benign	Het
Pkhd1	A	G	1: 20,636,094 (GRCm39)	V412A	possibly damaging	Het
Rev1	T	A	1: 38,118,474 (GRCm39)	I480L	probably benign	Het
Rimbp3	A	G	16: 17,028,708 (GRCm39)	T711A	probably benign	Het
RP23-191E1.1	T	A	3: 106,204,784 (GRCm39)		noncoding transcript	Het
Serpina11	A	T	12: 103,952,221 (GRCm39)	I183N	probably damaging	Het
Siglec1	T	C	2: 130,921,236 (GRCm39)	H645R	probably damaging	Het
Skint7	G	A	4: 111,837,501 (GRCm39)	R93H	probably damaging	Het
Slfn8	T	C	11: 82,894,910 (GRCm39)	E632G	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Trps1	G	A	15: 50,528,156 (GRCm39)	T658I	probably damaging	Het
Ubash3a	A	G	17: 31,438,691 (GRCm39)	T287A	probably damaging	Het
Ugt2b35	G	A	5: 87,159,139 (GRCm39)	W444*	probably null	Het
Vmn1r219	T	A	13: 23,347,063 (GRCm39)	V84D	probably damaging	Het
Vmn2r10	T	C	5: 109,154,121 (GRCm39)	Y61C	probably damaging	Het
Vmn2r104	G	A	17: 20,250,163 (GRCm39)	P703S	probably damaging	Het
Wdsub1	T	A	2: 59,708,873 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,715 (GRCm39)	Q461R	probably benign	Het
Zfp941	C	A	7: 140,391,872 (GRCm39)	G496*	probably null	Het

Other mutations in Gm14295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1623:Gm14295	UTSW	2	176,499,157 (GRCm39)	missense	probably damaging	1.00
R2061:Gm14295	UTSW	2	176,502,474 (GRCm39)	nonsense	probably null
R2172:Gm14295	UTSW	2	176,502,895 (GRCm39)	missense	possibly damaging	0.48
R2411:Gm14295	UTSW	2	176,499,206 (GRCm39)	missense	probably benign	0.29
R4472:Gm14295	UTSW	2	176,501,386 (GRCm39)	missense	possibly damaging	0.71
R4949:Gm14295	UTSW	2	176,501,469 (GRCm39)	missense	probably damaging	0.99
R5082:Gm14295	UTSW	2	176,499,210 (GRCm39)	nonsense	probably null
R5792:Gm14295	UTSW	2	176,502,807 (GRCm39)	missense	probably benign	0.10
R6170:Gm14295	UTSW	2	176,502,937 (GRCm39)	unclassified	probably benign
R6267:Gm14295	UTSW	2	176,500,782 (GRCm39)	nonsense	probably null
R6286:Gm14295	UTSW	2	176,501,361 (GRCm39)	missense	possibly damaging	0.52
R6743:Gm14295	UTSW	2	176,502,420 (GRCm39)	missense	probably damaging	1.00
R7456:Gm14295	UTSW	2	176,500,943 (GRCm39)	missense	possibly damaging	0.95
R7536:Gm14295	UTSW	2	176,502,722 (GRCm39)	missense	possibly damaging	0.74
R8049:Gm14295	UTSW	2	176,500,871 (GRCm39)	missense	probably benign	0.03
R8126:Gm14295	UTSW	2	176,502,658 (GRCm39)	missense	probably benign	0.04
R8209:Gm14295	UTSW	2	176,502,970 (GRCm39)	missense	unknown
R8292:Gm14295	UTSW	2	176,501,351 (GRCm39)	missense	probably damaging	0.99
R8356:Gm14295	UTSW	2	176,501,307 (GRCm39)	missense	probably benign	0.24
R8412:Gm14295	UTSW	2	176,501,422 (GRCm39)	missense	probably damaging	1.00
R8993:Gm14295	UTSW	2	176,501,623 (GRCm39)	missense	possibly damaging	0.48
R9459:Gm14295	UTSW	2	176,499,165 (GRCm39)	missense	possibly damaging	0.88
R9562:Gm14295	UTSW	2	176,499,162 (GRCm39)	missense	probably benign	0.34
R9565:Gm14295	UTSW	2	176,499,162 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AAAAGCCTTTGCAAGAAGTGGTGA -3'
(R):5'- GCAAAGGCTTTACCACATTGG -3'

Sequencing Primer
(F):5'- GTGGTAAAGCCTTTGCACATAGC -3'
(R):5'- CCACATTGGTTACATTCATAGGG -3'

Posted On

2016-07-22