Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Gm14295'

714745

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

176798612-176811223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 176807372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 5 (T5I)

Ref Sequence

ENSEMBL: ENSMUSP00000113133 (fasta)

Gene Model

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

AlphaFold

A2BG91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118012
AA Change: T5I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877
AA Change: T5I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132883
AA Change: T5I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: T5I

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

possibly damaging
Transcript: ENSMUST00000179435
AA Change: T4I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877
AA Change: T4I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	Het

Other mutations in Gm14295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1623:Gm14295	UTSW	2	176807364	missense	probably damaging	1.00
R2061:Gm14295	UTSW	2	176810681	nonsense	probably null
R2172:Gm14295	UTSW	2	176811102	missense	possibly damaging	0.48
R2411:Gm14295	UTSW	2	176807413	missense	probably benign	0.29
R4472:Gm14295	UTSW	2	176809593	missense	possibly damaging	0.71
R4949:Gm14295	UTSW	2	176809676	missense	probably damaging	0.99
R5082:Gm14295	UTSW	2	176807417	nonsense	probably null
R5311:Gm14295	UTSW	2	176810672	missense	probably benign	0.00
R5792:Gm14295	UTSW	2	176811014	missense	probably benign	0.10
R6170:Gm14295	UTSW	2	176811144	unclassified	probably benign
R6267:Gm14295	UTSW	2	176808989	nonsense	probably null
R6286:Gm14295	UTSW	2	176809568	missense	possibly damaging	0.52
R6743:Gm14295	UTSW	2	176810627	missense	probably damaging	1.00
R7456:Gm14295	UTSW	2	176809150	missense	possibly damaging	0.95
R7536:Gm14295	UTSW	2	176810929	missense	possibly damaging	0.74
R8049:Gm14295	UTSW	2	176809078	missense	probably benign	0.03
R8126:Gm14295	UTSW	2	176810865	missense	probably benign	0.04
R8209:Gm14295	UTSW	2	176811177	missense	unknown
R8292:Gm14295	UTSW	2	176809558	missense	probably damaging	0.99
R8356:Gm14295	UTSW	2	176809514	missense	probably benign	0.24
R8412:Gm14295	UTSW	2	176809629	missense	probably damaging	1.00
R8993:Gm14295	UTSW	2	176809830	missense	possibly damaging	0.48
R9562:Gm14295	UTSW	2	176807369	missense	probably benign	0.34
R9565:Gm14295	UTSW	2	176807369	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GCATCAGGTTCCCAGAGATC -3'
(R):5'- CCCAGTACCAGAGAAAGTATGTTAC -3'

Sequencing Primer
(F):5'- CAGGTTCCCAGAGATCATTTATTTAC -3'
(R):5'- CCATTGAACTTTAAAACCATGAGTG -3'

Posted On

2022-06-15