Mutagenetix > Incidental Mutation

Incidental Mutation 'R8412:Gm14295'

652723

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

067816-MU

Accession Numbers

Essential gene?

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

Stock #

R8412 (G1)

Quality Score

161.009

Status

Not validated

Chromosome

Chromosomal Location

176490405-176503016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 176501422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 304 (C304Y)

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 damaging
Transcript: ENSMUST00000132883
AA Change: C304Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: C304Y

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 183,765,356 (GRCm39)	R234S	probably damaging	Het
Ace	T	A	11: 105,870,092 (GRCm39)	F806Y	probably benign	Het
Ak8	A	G	2: 28,629,643 (GRCm39)	T286A	probably benign	Het
Apba2	T	A	7: 64,395,546 (GRCm39)	F674Y	probably damaging	Het
Apob	A	G	12: 8,058,069 (GRCm39)	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,356,854 (GRCm39)	P884L	probably benign	Het
Atg2a	T	C	19: 6,294,554 (GRCm39)	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,798,820 (GRCm39)	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,689,114 (GRCm39)	T266I	probably damaging	Het
Cdh26	A	G	2: 178,104,517 (GRCm39)	I301V	probably damaging	Het
Cenpx	A	T	11: 120,602,558 (GRCm39)	H68Q	unknown	Het
Cnot10	T	C	9: 114,439,738 (GRCm39)	R524G	probably benign	Het
Cnpy1	A	T	5: 28,414,206 (GRCm39)	Y22*	probably null	Het
Csmd3	C	T	15: 47,499,794 (GRCm39)	R2114H		Het
Defa29	T	A	8: 21,816,062 (GRCm39)	T102S	probably benign	Het
Fras1	T	C	5: 96,744,711 (GRCm39)	I582T	probably benign	Het
Gucy2d	T	C	7: 98,093,046 (GRCm39)	V141A	possibly damaging	Het
Ifi47	A	C	11: 48,986,425 (GRCm39)	Q64P	probably damaging	Het
Irx3	G	T	8: 92,527,028 (GRCm39)	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,340,581 (GRCm39)	H289R	probably benign	Het
Lamc3	A	G	2: 31,802,128 (GRCm39)	D512G	probably damaging	Het
Mcm3	C	T	1: 20,886,980 (GRCm39)	V142I	probably benign	Het
Med23	C	A	10: 24,784,632 (GRCm39)	F1200L	probably benign	Het
Ndst4	A	T	3: 125,364,439 (GRCm39)	D372V	possibly damaging	Het
Nob1	T	A	8: 108,148,230 (GRCm39)	K71*	probably null	Het
Ntrk3	A	G	7: 78,005,897 (GRCm39)	I488T	probably benign	Het
Pds5b	G	T	5: 150,643,424 (GRCm39)	C82F	probably damaging	Het
Pkd1l3	T	A	8: 110,360,022 (GRCm39)	V969E	possibly damaging	Het
Ppme1	A	T	7: 99,984,298 (GRCm39)	N307K	probably benign	Het
Pus7l	C	T	15: 94,425,856 (GRCm39)	C515Y	probably benign	Het
Rpp21	T	A	17: 36,568,591 (GRCm39)	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,088,525 (GRCm39)	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,412,379 (GRCm39)	K52*	probably null	Het
Slc12a3	T	C	8: 95,060,695 (GRCm39)	I261T	probably damaging	Het
Slc19a3	C	T	1: 82,992,533 (GRCm39)	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,009,922 (GRCm39)	I58V	probably benign	Het
Slc9a9	A	C	9: 95,111,092 (GRCm39)	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,278,316 (GRCm39)	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,088,457 (GRCm39)	V905A	probably damaging	Het
Taok3	A	G	5: 117,404,102 (GRCm39)	D759G	possibly damaging	Het
Tas1r1	T	C	4: 152,117,033 (GRCm39)	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,204,139 (GRCm39)	V360A	possibly damaging	Het
Trim12a	A	T	7: 103,953,544 (GRCm39)	M189K	possibly damaging	Het
Tspan32	T	C	7: 142,559,695 (GRCm39)	F41L	probably benign	Het
Tube1	T	A	10: 39,021,657 (GRCm39)	S301T	possibly damaging	Het
Usp8	T	C	2: 126,584,578 (GRCm39)	S596P	probably benign	Het
Virma	T	A	4: 11,521,261 (GRCm39)		probably null	Het
Vmn2r58	T	C	7: 41,513,722 (GRCm39)	D307G	probably benign	Het
Zeb2	T	C	2: 44,888,964 (GRCm39)	K327R	probably damaging	Het
Zfp54	C	T	17: 21,654,910 (GRCm39)	T468M	probably benign	Het
Zfp780b	A	T	7: 27,662,551 (GRCm39)	I668N	possibly 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
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
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'- GAGTCACCTCCAAATACATAAGCGAA -3'
(R):5'- CGGAGATGACTGCTTTGTGC -3'

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

Posted On

2020-10-20