Mutagenetix > Incidental Mutation

Incidental Mutation 'R3845:AU041133'

277335

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

040893-MU

Accession Numbers

Essential gene?

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

Stock #

R3845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81987152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 268 (H268Q)

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: H267Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: H267Q

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: H268Q

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

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: H268Q

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: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,079,669 (GRCm39)	N185S	probably benign	Het
Apool	A	T	X: 111,274,155 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,416,540 (GRCm39)	N439S	probably null	Het
Ccdc136	C	T	6: 29,417,176 (GRCm39)	R666W	probably benign	Het
Ccdc97	T	C	7: 25,414,453 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,839,583 (GRCm39)	V336A	possibly damaging	Het
Chd3	T	C	11: 69,237,585 (GRCm39)	N1870D	possibly damaging	Het
Col5a3	C	T	9: 20,719,673 (GRCm39)	D229N	unknown	Het
Cpn1	G	T	19: 43,962,523 (GRCm39)	P142Q	possibly damaging	Het
Cubn	T	C	2: 13,287,819 (GRCm39)	D3420G	probably damaging	Het
Cyp2u1	A	G	3: 131,087,135 (GRCm39)	F482S	possibly damaging	Het
Foxo1	T	A	3: 52,253,701 (GRCm39)	D621E	probably benign	Het
Grid2	A	G	6: 64,322,826 (GRCm39)	M609V	possibly damaging	Het
Hsd17b3	A	T	13: 64,236,876 (GRCm39)	F23I	possibly damaging	Het
Kcnk10	A	G	12: 98,407,003 (GRCm39)	I217T	probably benign	Het
Mis18bp1	G	A	12: 65,195,916 (GRCm39)	S616L	possibly damaging	Het
Mtch1	A	T	17: 29,561,806 (GRCm39)	F133I	probably damaging	Het
Myh4	T	A	11: 67,149,931 (GRCm39)	V1830E	possibly damaging	Het
Nav3	T	C	10: 109,689,237 (GRCm39)	M347V	possibly damaging	Het
Nbea	A	G	3: 55,993,713 (GRCm39)		probably benign	Het
Nhej1	A	T	1: 75,008,042 (GRCm39)	D76E	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or5m12	A	C	2: 85,735,081 (GRCm39)	C106G	probably damaging	Het
Pias3	T	C	3: 96,609,526 (GRCm39)	V307A	probably benign	Het
Pltp	T	A	2: 164,696,208 (GRCm39)	M135L	probably benign	Het
Plxna2	A	G	1: 194,476,098 (GRCm39)	Y1106C	probably damaging	Het
Pramel26	T	C	4: 143,538,545 (GRCm39)	E142G	probably damaging	Het
Ptgir	G	A	7: 16,641,311 (GRCm39)	R201H	probably damaging	Het
Ptk7	A	T	17: 46,897,344 (GRCm39)	D329E	probably benign	Het
Pygl	T	C	12: 70,245,217 (GRCm39)	D411G	probably benign	Het
Rev1	A	T	1: 38,138,069 (GRCm39)	M72K	probably damaging	Het
Sfrp1	T	C	8: 23,902,264 (GRCm39)	L155P	probably damaging	Het
Slc5a4a	A	G	10: 76,024,983 (GRCm39)	E620G	probably damaging	Het
Smarca2	A	G	19: 26,698,273 (GRCm39)	I1314V	probably benign	Het
Tas2r109	G	A	6: 132,957,766 (GRCm39)	L55F	probably damaging	Het
Tek	T	A	4: 94,693,109 (GRCm39)	C274S	probably damaging	Het
Tektl1	T	C	10: 78,584,532 (GRCm39)	N330S	probably benign	Het
Tent4b	A	T	8: 88,977,292 (GRCm39)	I322F	possibly damaging	Het
Tmem38b	T	A	4: 53,859,905 (GRCm39)	D228E	probably benign	Het
Topbp1	T	C	9: 103,187,122 (GRCm39)	V109A	possibly damaging	Het
Trbv5	A	G	6: 41,039,682 (GRCm39)	I96V	probably benign	Het
Trim16	T	G	11: 62,727,498 (GRCm39)		probably benign	Het
Upf3a	A	T	8: 13,848,238 (GRCm39)	T345S	probably benign	Het
Usp15	A	G	10: 122,955,040 (GRCm39)	S913P	probably damaging	Het
Vmn2r124	T	A	17: 18,293,953 (GRCm39)	V680D	possibly damaging	Het
Vmn2r91	G	A	17: 18,327,860 (GRCm39)	V485I	probably benign	Het
Zdbf2	A	T	1: 63,347,483 (GRCm39)	H1954L	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
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
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'- AGAAACCCTATGATTGCAGTGA -3'
(R):5'- CATAAGGTTTCTCTCCAGTGTGAG -3'

Sequencing Primer
(F):5'- GAAACCCTATGATTGCAGTGACTGTG -3'
(R):5'- GCGACATGCAAAGGCTTTAC -3'

Posted On

2015-04-06