Mutagenetix > Incidental Mutation

Incidental Mutation 'R5835:AU041133'

449549

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

044056-MU

Accession Numbers

Essential gene?

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

Stock #

R5835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81987046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 232 (L232H)

Ref Sequence

ENSEMBL: ENSMUSP00000100951 (fasta)

Gene Model

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

AlphaFold

A0A0J9YVH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000105314
AA Change: L232H

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

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: L232H

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: L233H

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

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: L233H

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2m	A	G	6: 121,616,295 (GRCm39)	K141R	probably damaging	Het
Ablim3	T	C	18: 61,956,993 (GRCm39)	E278G	probably damaging	Het
Adam28	A	G	14: 68,893,130 (GRCm39)	W4R	possibly damaging	Het
Ahnak2	T	C	12: 112,742,230 (GRCm39)	N614S	possibly damaging	Het
Arfgef1	A	G	1: 10,230,964 (GRCm39)	S1182P	probably damaging	Het
Asb8	A	T	15: 98,034,263 (GRCm39)	D97E	probably damaging	Het
Bmp2k	T	G	5: 97,204,841 (GRCm39)	V392G	possibly damaging	Het
Capn12	C	A	7: 28,581,383 (GRCm39)	H79N	probably benign	Het
Casp2	C	A	6: 42,244,520 (GRCm39)	S54R	possibly damaging	Het
Ccdc18	T	C	5: 108,288,740 (GRCm39)	S163P	possibly damaging	Het
Ccdc92b	A	G	11: 74,528,838 (GRCm39)	E114G	probably benign	Het
Cd209c	C	A	8: 3,995,699 (GRCm39)	M34I	probably benign	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cndp1	C	A	18: 84,630,958 (GRCm39)	A434S	probably benign	Het
Crybg1	T	A	10: 43,851,129 (GRCm39)	T1581S	probably benign	Het
Cyb5d2	A	T	11: 72,680,036 (GRCm39)	D86E	probably damaging	Het
Duox1	T	G	2: 122,158,341 (GRCm39)	V608G	probably benign	Het
Exosc10	A	G	4: 148,649,844 (GRCm39)	R425G	probably damaging	Het
Fat3	A	T	9: 16,287,129 (GRCm39)	I798N	probably damaging	Het
Habp2	T	A	19: 56,295,218 (GRCm39)	D36E	probably benign	Het
Herpud1	T	C	8: 95,118,867 (GRCm39)	V207A	probably damaging	Het
Htt	A	G	5: 34,970,534 (GRCm39)	I561V	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Igkv18-36	A	G	6: 69,969,512 (GRCm39)	I93T	probably damaging	Het
Kalrn	T	G	16: 33,807,461 (GRCm39)	E2636A	probably benign	Het
Kif27	A	G	13: 58,460,960 (GRCm39)		probably null	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Myh6	T	C	14: 55,187,864 (GRCm39)	K1197E	probably damaging	Het
Obscn	T	C	11: 58,892,907 (GRCm39)	T6780A	probably benign	Het
Obscn	C	T	11: 58,932,953 (GRCm39)	V4808M	probably damaging	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Pkhd1	T	C	1: 20,271,307 (GRCm39)	D3082G	probably benign	Het
Plch1	T	C	3: 63,604,943 (GRCm39)	M1645V	probably benign	Het
Ppip5k1	A	G	2: 121,168,380 (GRCm39)	V674A	probably benign	Het
Prrc2b	T	A	2: 32,096,485 (GRCm39)	S619T	probably benign	Het
Rab44	A	T	17: 29,367,212 (GRCm39)	H714L	probably benign	Het
Rybp	A	G	6: 100,210,151 (GRCm39)	Y70H	possibly damaging	Het
Sfrp1	A	G	8: 23,936,260 (GRCm39)	K234R	possibly damaging	Het
Slc1a2	A	G	2: 102,607,795 (GRCm39)	N481S	probably damaging	Het
Slc44a3	T	G	3: 121,320,849 (GRCm39)	I51L	probably benign	Het
Slitrk1	A	G	14: 109,149,004 (GRCm39)	F569S	possibly damaging	Het
Smurf2	A	T	11: 106,726,974 (GRCm39)	N451K	probably damaging	Het
Sptbn2	T	A	19: 4,788,247 (GRCm39)	D1075E	probably damaging	Het
Syngap1	A	T	17: 27,177,192 (GRCm39)	H65L	probably benign	Het
Tdrd12	T	C	7: 35,228,689 (GRCm39)	D11G	probably damaging	Het
Tex2	C	T	11: 106,410,739 (GRCm39)	A926T	unknown	Het
Tm7sf2	A	G	19: 6,113,914 (GRCm39)	F209S	probably damaging	Het
Trbv12-2	G	A	6: 41,095,774 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,514,036 (GRCm39)	L630H	probably damaging	Het
Vmn1r68	A	G	7: 10,261,747 (GRCm39)	I117T	possibly damaging	Het
Zan	C	A	5: 137,454,917 (GRCm39)	R1373L	unknown	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
R5315:AU041133	UTSW	10	81,987,506 (GRCm39)	nonsense	probably null
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'- AAATCCTTTCCAAGTCGCAATTC -3'
(R):5'- TGCAAAGGCTTTACCACATTCA -3'

Sequencing Primer
(F):5'- ACCCTATGATTGCAACGAGTGTG -3'
(R):5'- CTGTGACTTGGAAAGGCTTTACCAC -3'

Posted On

2016-12-20