Mutagenetix > Incidental Mutation

Incidental Mutation 'R4214:AU041133'

319357

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

041041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4214 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81987223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 292 (H292R)

Ref Sequence

ENSEMBL: ENSMUSP00000144661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105314] [ENSMUST00000201286]

AlphaFold

A0A0J9YVH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000105314
AA Change: H291R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: H291R

Domain	Start	End	E-Value	Type
KRAB	3	65	1.77e-15	SMART
ZnF_C2H2	105	127	1.16e-1	SMART
ZnF_C2H2	133	155	3.26e-5	SMART
ZnF_C2H2	161	183	1.26e-2	SMART
ZnF_C2H2	189	211	7.37e-4	SMART
ZnF_C2H2	217	239	3.39e-3	SMART
ZnF_C2H2	245	267	1.26e-2	SMART
ZnF_C2H2	273	295	4.79e-3	SMART
ZnF_C2H2	301	323	6.99e-5	SMART
ZnF_C2H2	329	351	5.9e-3	SMART
ZnF_C2H2	357	379	1.03e-2	SMART
ZnF_C2H2	385	407	6.42e-4	SMART
ZnF_C2H2	413	435	8.94e-3	SMART
ZnF_C2H2	441	463	1.6e-4	SMART
ZnF_C2H2	469	491	5.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201286
AA Change: H292R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: H292R

Domain	Start	End	E-Value	Type
KRAB	4	66	7.7e-18	SMART
ZnF_C2H2	106	128	5e-4	SMART
ZnF_C2H2	134	156	1.4e-7	SMART
ZnF_C2H2	162	184	5.3e-5	SMART
ZnF_C2H2	190	212	3.2e-6	SMART
ZnF_C2H2	218	240	1.4e-5	SMART
ZnF_C2H2	246	268	5.3e-5	SMART
ZnF_C2H2	274	296	2e-5	SMART
ZnF_C2H2	302	324	3.1e-7	SMART
ZnF_C2H2	330	352	2.6e-5	SMART
ZnF_C2H2	358	380	4.5e-5	SMART
ZnF_C2H2	386	408	2.8e-6	SMART
ZnF_C2H2	414	436	3.9e-5	SMART
ZnF_C2H2	442	464	7e-7	SMART
ZnF_C2H2	470	492	2.5e-6	SMART

Meta Mutation Damage Score

0.7559

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.5%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	C	T	1: 192,515,845 (GRCm39)		noncoding transcript	Het
Abca12	T	A	1: 71,327,856 (GRCm39)	D1408V	probably damaging	Het
Abca13	A	T	11: 9,243,877 (GRCm39)	L1913F	probably damaging	Het
Acad9	A	G	3: 36,127,752 (GRCm39)	E118G	probably damaging	Het
Adamts5	G	A	16: 85,665,531 (GRCm39)	A590V	probably damaging	Het
Ano6	A	C	15: 95,863,790 (GRCm39)	Y791S	probably benign	Het
Aox1	T	C	1: 58,346,603 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,261,051 (GRCm39)	I128N	probably damaging	Het
Atp2b3	A	G	X: 72,613,921 (GRCm39)	M1142V	probably benign	Het
Bco2	A	G	9: 50,456,666 (GRCm39)	M158T	probably benign	Het
Bpnt1	T	A	1: 185,077,626 (GRCm39)		probably benign	Het
Cadm1	A	G	9: 47,708,741 (GRCm39)	D157G	probably damaging	Het
Catsperg1	T	C	7: 28,895,357 (GRCm39)	R499G	possibly damaging	Het
Ccr7	T	C	11: 99,035,872 (GRCm39)	E350G	probably damaging	Het
Ceacam5	T	A	7: 17,486,076 (GRCm39)	S524R	probably benign	Het
Cep78	T	C	19: 15,936,943 (GRCm39)	T588A	probably benign	Het
Cfap65	T	A	1: 74,966,840 (GRCm39)	E282D	possibly damaging	Het
Drd2	A	G	9: 49,316,221 (GRCm39)	K327R	probably benign	Het
Erich5	C	T	15: 34,471,557 (GRCm39)	P262L	possibly damaging	Het
Ezh2	A	C	6: 47,510,748 (GRCm39)	D578E	probably damaging	Het
Fez1	A	G	9: 36,781,784 (GRCm39)	N20S	probably damaging	Het
Folr2	T	G	7: 101,492,906 (GRCm39)	K39T	probably damaging	Het
Gm10549	G	T	18: 33,597,530 (GRCm39)		probably null	Het
Gm14393	C	T	2: 174,903,640 (GRCm39)	C89Y	probably benign	Het
Gm5329	T	G	7: 31,671,828 (GRCm39)		noncoding transcript	Het
Gm7367	A	G	7: 59,805,517 (GRCm39)		noncoding transcript	Het
Gpr162	A	T	6: 124,837,031 (GRCm39)	W338R	probably damaging	Het
Ift80	A	T	3: 68,898,141 (GRCm39)	F65I	possibly damaging	Het
Klra6	T	G	6: 129,995,885 (GRCm39)	I158L	probably benign	Het
Lpp	T	A	16: 24,580,804 (GRCm39)	Y173*	probably null	Het
Lrp12	A	G	15: 39,735,976 (GRCm39)	V671A	probably benign	Het
Lrrc27	C	T	7: 138,803,609 (GRCm39)	R178C	probably damaging	Het
Lrrc49	G	A	9: 60,573,609 (GRCm39)	T225M	probably benign	Het
Megf8	T	A	7: 25,054,793 (GRCm39)	S1915T	probably benign	Het
Mmadhc	T	C	2: 50,181,344 (GRCm39)	T109A	probably benign	Het
Mon2	T	C	10: 122,852,397 (GRCm39)	E992G	probably benign	Het
Msl3	A	G	X: 167,450,059 (GRCm39)	I267T	probably damaging	Het
Msl3	A	T	X: 167,445,430 (GRCm39)	N430K	probably damaging	Het
Nab2	G	T	10: 127,500,917 (GRCm39)	Y25*	probably null	Het
Notch3	T	C	17: 32,351,181 (GRCm39)	E1938G	possibly damaging	Het
Or5ae2	C	T	7: 84,506,497 (GRCm39)	H307Y	probably benign	Het
Osgepl1	A	G	1: 53,354,167 (GRCm39)	T44A	probably damaging	Het
Pdpr	A	G	8: 111,856,212 (GRCm39)		probably benign	Het
Pfkp	A	G	13: 6,669,261 (GRCm39)	S241P	probably damaging	Het
Phgdh	A	T	3: 98,235,377 (GRCm39)	S166T	possibly damaging	Het
Plcl1	C	T	1: 55,790,494 (GRCm39)	Q1055*	probably null	Het
Plscr2	A	G	9: 92,169,790 (GRCm39)	N80S	probably benign	Het
Polr3k	A	T	2: 181,510,035 (GRCm39)	M80L	probably benign	Het
Prex2	A	G	1: 11,171,383 (GRCm39)	D304G	probably damaging	Het
Prex2	A	G	1: 11,355,285 (GRCm39)	T1529A	probably damaging	Het
Rcvrn	A	T	11: 67,586,514 (GRCm39)	H91L	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Tbx18	T	C	9: 87,606,518 (GRCm39)	Y209C	probably damaging	Het
Themis3	T	C	17: 66,867,012 (GRCm39)	N76S	probably benign	Het
Trhde	A	T	10: 114,623,975 (GRCm39)	S310T	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,173 (GRCm39)	C252Y	possibly damaging	Het
Zfp523	T	C	17: 28,420,003 (GRCm39)	V216A	probably benign	Het

Other mutations in AU041133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03403:AU041133	APN	10	81,974,178 (GRCm39)	missense	probably damaging	1.00
R0755:AU041133	UTSW	10	81,986,724 (GRCm39)	nonsense	probably null
R1924:AU041133	UTSW	10	81,987,101 (GRCm39)	nonsense	probably null
R2211:AU041133	UTSW	10	81,986,755 (GRCm39)	missense	probably damaging	1.00
R2400:AU041133	UTSW	10	81,986,742 (GRCm39)	nonsense	probably null
R3845:AU041133	UTSW	10	81,987,152 (GRCm39)	missense	probably damaging	1.00
R3914:AU041133	UTSW	10	81,987,649 (GRCm39)	missense	probably damaging	0.99
R4414:AU041133	UTSW	10	81,987,316 (GRCm39)	missense	probably damaging	1.00
R5315:AU041133	UTSW	10	81,987,506 (GRCm39)	nonsense	probably null
R5835:AU041133	UTSW	10	81,987,046 (GRCm39)	missense	probably damaging	1.00
R6258:AU041133	UTSW	10	81,986,992 (GRCm39)	missense	probably damaging	1.00
R6877:AU041133	UTSW	10	81,987,405 (GRCm39)	missense	probably benign	0.24
R7127:AU041133	UTSW	10	81,986,700 (GRCm39)	missense	probably benign	0.14
R7200:AU041133	UTSW	10	81,986,935 (GRCm39)	missense	possibly damaging	0.94
R7228:AU041133	UTSW	10	81,987,105 (GRCm39)	missense	possibly damaging	0.93
R7828:AU041133	UTSW	10	81,987,054 (GRCm39)	missense	probably damaging	1.00
R8198:AU041133	UTSW	10	81,987,249 (GRCm39)	missense	probably damaging	1.00
R9253:AU041133	UTSW	10	81,987,220 (GRCm39)	missense	probably benign	0.01
R9800:AU041133	UTSW	10	81,986,679 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACCCTATGATTGCAACGAGTG -3'
(R):5'- ATGATAGGGTTTCTCTCCTGTATGAG -3'

Sequencing Primer
(F):5'- CCCTATGGATGTAACCAATGTGG -3'
(R):5'- AGGGTTTCTCTCCTGTATGAGTTCTC -3'

Posted On

2015-06-10