Mutagenetix > Incidental Mutation

Incidental Mutation 'R6286:Gm14295'

508219

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

044456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6286 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

176490405-176503016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 176501361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 284 (Y284H)

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

possibly damaging
Transcript: ENSMUST00000132883
AA Change: Y284H

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: Y284H

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	A	17: 72,187,842 (GRCm39)	M1300L	probably damaging	Het
C3	A	T	17: 57,531,118 (GRCm39)	I356N	probably damaging	Het
Cntnap5b	T	A	1: 100,182,798 (GRCm39)	S276T	possibly damaging	Het
Cts7	C	T	13: 61,500,584 (GRCm39)	G321E	probably damaging	Het
Cyp11a1	G	A	9: 57,924,701 (GRCm39)		probably benign	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dnttip2	A	G	3: 122,078,049 (GRCm39)	T694A	probably damaging	Het
Eif3b	G	T	5: 140,405,566 (GRCm39)	D151Y	probably damaging	Het
Fhad1	T	A	4: 141,648,209 (GRCm39)	E219V	probably damaging	Het
Gdf2	C	T	14: 33,667,057 (GRCm39)	R260C	probably damaging	Het
Gm45861	A	G	8: 28,019,619 (GRCm39)	T745A	unknown	Het
Grin2a	G	A	16: 9,579,639 (GRCm39)	T208I	possibly damaging	Het
Ide	T	A	19: 37,255,409 (GRCm39)	Y798F	unknown	Het
Llgl1	G	A	11: 60,600,358 (GRCm39)	G569D	probably damaging	Het
Mrpl9	G	C	3: 94,351,097 (GRCm39)	E92D	probably benign	Het
Muc16	T	A	9: 18,555,685 (GRCm39)	H3536L	unknown	Het
Nasp	T	C	4: 116,461,985 (GRCm39)	Y526C	probably damaging	Het
Nfx1	A	G	4: 40,986,728 (GRCm39)	N404D	probably damaging	Het
Nsrp1	A	G	11: 76,940,269 (GRCm39)	I112T	probably damaging	Het
Or6c7	T	C	10: 129,323,497 (GRCm39)	L206P	probably damaging	Het
Or8b8	A	T	9: 37,809,074 (GRCm39)	I125F	probably damaging	Het
Oxsr1	A	G	9: 119,093,948 (GRCm39)	V235A	probably damaging	Het
Pamr1	C	T	2: 102,471,293 (GRCm39)	Q539*	probably null	Het
Pramel20	T	A	4: 143,297,796 (GRCm39)	V72D	probably benign	Het
Ptpn4	A	G	1: 119,649,592 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,315,394 (GRCm39)	A2038V	probably benign	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Homo
Septin5	A	G	16: 18,442,127 (GRCm39)	V253A	probably damaging	Het
Skic3	T	C	13: 76,291,359 (GRCm39)	L993P	probably damaging	Het
Slc22a13	C	A	9: 119,037,778 (GRCm39)	E117*	probably null	Het
Slc9c1	T	C	16: 45,398,194 (GRCm39)	I653T	probably benign	Het
Slco6c1	T	A	1: 97,053,445 (GRCm39)	H152L	possibly damaging	Het
Sp2	A	C	11: 96,852,372 (GRCm39)	V184G	probably benign	Het
Taok1	T	A	11: 77,444,599 (GRCm39)	H492L	probably benign	Het
Tas2r110	G	A	6: 132,845,490 (GRCm39)	D174N	probably benign	Het
Trim24	G	A	6: 37,896,426 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,581,321 (GRCm39)	R21445*	probably null	Het
Ttn	A	G	2: 76,605,967 (GRCm39)	Y16502H	probably damaging	Het
Vmn2r84	A	C	10: 130,226,737 (GRCm39)	M367R	possibly damaging	Het
Zfp46	T	C	4: 136,018,320 (GRCm39)	S385P	probably damaging	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
R5311:Gm14295	UTSW	2	176,502,465 (GRCm39)	missense	probably benign	0.00
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
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'- TGGAAAAGCCTTTGCAAGAAGTG -3'
(R):5'- AAGGCTTTTCCACATTGGTTAC -3'

Sequencing Primer
(F):5'- TGTGGTAAAGCCTTTGCACAAAGC -3'
(R):5'- GTGCAAAGGCTTTACCACATTG -3'

Posted On

2018-03-15