Mutagenetix > Incidental Mutation

Incidental Mutation 'R3914:AU041133'

309564

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

040912-MU

Accession Numbers

Essential gene?

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

Stock #

R3914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81987649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 434 (R434Q)

Ref Sequence

ENSEMBL: ENSMUSP00000144661 (fasta)

Gene Model

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

AlphaFold

A0A0J9YVH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105314
AA Change: R433Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: R433Q

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: R434Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: R434Q

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	A	T	3: 89,861,755 (GRCm39)	I266N	probably damaging	Het
Ccdc174	G	T	6: 91,876,338 (GRCm39)	A392S	possibly damaging	Het
Cdh18	T	C	15: 23,410,771 (GRCm39)	Y419H	probably damaging	Het
Col20a1	A	G	2: 180,640,285 (GRCm39)	K509R	probably benign	Het
Csmd2	A	T	4: 128,215,117 (GRCm39)	D513V	probably benign	Het
Disp1	A	G	1: 182,870,666 (GRCm39)	F585L	probably benign	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Exoc1	G	A	5: 76,691,408 (GRCm39)	S244N	possibly damaging	Het
Fam234b	A	G	6: 135,202,681 (GRCm39)	D345G	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,504,371 (GRCm39)	M158L	probably benign	Het
Hdc	T	C	2: 126,444,926 (GRCm39)	T255A	probably damaging	Het
Hps5	T	C	7: 46,432,950 (GRCm39)	T257A	probably damaging	Het
Ice1	A	G	13: 70,754,203 (GRCm39)	C628R	probably benign	Het
Igkv2-137	A	T	6: 67,532,968 (GRCm39)	R44W	probably damaging	Het
Islr2	A	T	9: 58,105,666 (GRCm39)	Y531*	probably null	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mrc2	T	C	11: 105,238,058 (GRCm39)		probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Nup58	A	G	14: 60,469,596 (GRCm39)	M375T	possibly damaging	Het
Phaf1	A	G	8: 105,966,615 (GRCm39)	N121D	probably benign	Het
Phldb2	T	C	16: 45,577,526 (GRCm39)	E1133G	probably damaging	Het
Rabl6	T	C	2: 25,478,718 (GRCm39)	T238A	possibly damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Riok3	A	G	18: 12,281,879 (GRCm39)	I283V	probably benign	Het
Rrm1	A	G	7: 102,106,381 (GRCm39)	Y300C	probably damaging	Het
Shoc1	T	A	4: 59,094,201 (GRCm39)	R174S	possibly damaging	Het
Sipa1l3	T	C	7: 29,099,510 (GRCm39)	D253G	probably benign	Het
Slc22a8	T	A	19: 8,585,550 (GRCm39)	I305N	probably damaging	Het
Slc26a3	A	T	12: 31,503,905 (GRCm39)	E303D	probably benign	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Tars3	C	A	7: 65,333,556 (GRCm39)	Q585K	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ubqlnl	A	G	7: 103,798,813 (GRCm39)	V228A	probably benign	Het
Wnt7b	T	A	15: 85,422,059 (GRCm39)	D201V	possibly damaging	Het
Xpot	A	T	10: 121,440,443 (GRCm39)	I596N	possibly damaging	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
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
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'- AATGTGGTAAAGCGTTTGCATGTAG -3'
(R):5'- GCTTGTCCATATTGACTACACAC -3'

Sequencing Primer
(F):5'- GCATGTAGCAGTAGTCTTCAAAAAC -3'
(R):5'- GGCTTCACCACACTGATTAATTTGG -3'

Posted On

2015-04-17