Mutagenetix > Incidental Mutation

Incidental Mutation 'R5315:AU041133'

405803

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

042898-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5315 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 81987506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 386 (Y386*)

Ref Sequence

ENSEMBL: ENSMUSP00000144661 (fasta)

Gene Model

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

AlphaFold

A0A0J9YVH3

Predicted Effect

probably null
Transcript: ENSMUST00000105314
AA Change: Y385*

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: Y385*

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 null
Transcript: ENSMUST00000201286
AA Change: Y386*

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: Y386*

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

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,885,747 (GRCm39)	V51A	probably benign	Het
Ass1	A	T	2: 31,382,341 (GRCm39)	I171F	probably benign	Het
Bex6	A	G	16: 32,005,311 (GRCm39)	N40D	probably benign	Het
Cc2d2a	A	G	5: 43,877,775 (GRCm39)	Y1044C	probably damaging	Het
Cflar	C	G	1: 58,792,961 (GRCm39)	D442E	probably benign	Het
Dag1	A	G	9: 108,086,316 (GRCm39)	V275A	probably damaging	Het
Dnah17	G	A	11: 118,018,109 (GRCm39)	R129W	possibly damaging	Het
Epha4	C	T	1: 77,365,109 (GRCm39)		probably null	Het
Eri2	T	C	7: 119,385,241 (GRCm39)	D420G	probably benign	Het
Gm42669	A	T	5: 107,656,103 (GRCm39)	I1301F	probably damaging	Het
Golga2	A	G	2: 32,193,773 (GRCm39)	E463G	probably damaging	Het
Grsf1	G	A	5: 88,821,634 (GRCm39)		probably benign	Het
Igkv6-15	A	C	6: 70,383,957 (GRCm39)	V7G	possibly damaging	Het
Katnal2	A	T	18: 77,099,705 (GRCm39)	V143D	probably benign	Het
Mepce	A	C	5: 137,780,955 (GRCm39)	I617S	probably damaging	Het
Mms19	C	T	19: 41,943,201 (GRCm39)	R320Q	possibly damaging	Het
Nt5c2	T	C	19: 46,880,682 (GRCm39)	Y353C	probably damaging	Het
Or5p76	A	G	7: 108,123,097 (GRCm39)	L20S	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pitpnm2	A	T	5: 124,259,996 (GRCm39)	D1111E	probably benign	Het
Plin5	C	A	17: 56,421,066 (GRCm39)	V200L	probably benign	Het
Rab3a	T	C	8: 71,208,569 (GRCm39)	F23L	probably damaging	Het
Rrp8	T	C	7: 105,383,207 (GRCm39)	K353R	probably benign	Het
S100a7l2	G	A	3: 90,997,637 (GRCm39)	T26M	possibly damaging	Het
Senp7	A	G	16: 56,000,889 (GRCm39)	D887G	probably benign	Het
Sftpb	G	T	6: 72,283,876 (GRCm39)	A158S	probably benign	Het
Sh2d2a	A	C	3: 87,754,976 (GRCm39)	T23P	probably damaging	Het
Siglecf	T	C	7: 43,004,532 (GRCm39)	L287P	probably benign	Het
Slc4a1	T	A	11: 102,249,080 (GRCm39)	I233F	possibly damaging	Het
Spef2	T	C	15: 9,596,777 (GRCm39)	Q1424R	probably damaging	Het
Tbc1d14	T	C	5: 36,664,932 (GRCm39)	D567G	probably damaging	Het
Tmem106b	T	G	6: 13,081,559 (GRCm39)	N155K	probably damaging	Het
Vmn2r2	C	A	3: 64,024,377 (GRCm39)	V735F	probably benign	Het
Zfp850	T	C	7: 27,689,743 (GRCm39)	K155R	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
R4214:AU041133	UTSW	10	81,987,223 (GRCm39)	missense	probably damaging	1.00
R4414:AU041133	UTSW	10	81,987,316 (GRCm39)	missense	probably damaging	1.00
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'- CGCATACAGGAGAGAAACCCT -3'
(R):5'- GGCTTGTCCATATTGACTACACAC -3'

Sequencing Primer
(F):5'- ACCCTATGACTGTAATGAATGTGG -3'
(R):5'- ACGTGTAAAGGCTTTACCGC -3'

Posted On

2016-07-22