Mutagenetix > Incidental Mutation

Incidental Mutation 'R8198:AU041133'

635553

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

067621-MU

Accession Numbers

Essential gene?

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

Stock #

R8198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 81987249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 301 (P301A)

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: P300A

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

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: P300A

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: P301A

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

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: P301A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,825,017 (GRCm39)	*168R	probably null	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ankrd27	T	C	7: 35,307,880 (GRCm39)	V373A	probably benign	Het
Aoah	C	T	13: 21,101,290 (GRCm39)	P270L	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Cd2bp2	A	G	7: 126,793,576 (GRCm39)	S204P	possibly damaging	Het
Clca4b	C	A	3: 144,638,167 (GRCm39)	G32C	probably damaging	Het
Clcn2	A	G	16: 20,525,946 (GRCm39)	V808A	probably damaging	Het
Clec4d	T	C	6: 123,244,965 (GRCm39)	C82R	probably damaging	Het
Dennd1c	T	C	17: 57,373,460 (GRCm39)	D671G	possibly damaging	Het
Eml5	G	A	12: 98,825,145 (GRCm39)	R691*	probably null	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gm4922	T	C	10: 18,659,340 (GRCm39)	T461A	probably benign	Het
Gm9964	A	G	11: 79,187,405 (GRCm39)	V14A	unknown	Het
Gnb3	T	C	6: 124,814,000 (GRCm39)	Y196C	probably benign	Het
H4c2	C	G	13: 23,941,283 (GRCm39)	Q94E	possibly damaging	Het
Hps1	C	T	19: 42,755,659 (GRCm39)	R189Q	probably benign	Het
Iars2	G	A	1: 185,029,703 (GRCm39)	T638I	probably benign	Het
Itpripl2	A	G	7: 118,089,819 (GRCm39)	S247P	probably damaging	Het
Leng8	C	A	7: 4,147,170 (GRCm39)	R523S	possibly damaging	Het
Lhfpl3	T	A	5: 23,478,333 (GRCm39)	V72D	probably benign	Het
Lmntd2	A	T	7: 140,791,134 (GRCm39)	M426K	possibly damaging	Het
Lsg1	A	T	16: 30,383,594 (GRCm39)	V542E	probably benign	Het
Mphosph6	C	T	8: 118,519,449 (GRCm39)	V108I	probably benign	Het
Mta2	A	G	19: 8,925,145 (GRCm39)	T338A	probably benign	Het
Ncoa7	T	C	10: 30,580,664 (GRCm39)	N98S	probably benign	Het
Or52h7	T	A	7: 104,214,140 (GRCm39)	D237E	probably benign	Het
Or7a36	C	A	10: 78,820,443 (GRCm39)	T273K	probably benign	Het
Or7a42	T	A	10: 78,791,558 (GRCm39)	V173E	probably damaging	Het
Pgr	T	C	9: 8,958,411 (GRCm39)	V806A	possibly damaging	Het
Rad54b	T	C	4: 11,612,440 (GRCm39)		probably null	Het
Sdad1	A	T	5: 92,439,811 (GRCm39)	C405S	probably damaging	Het
Semp2l2a	T	A	8: 13,887,056 (GRCm39)	Y345F	probably benign	Het
Shoc1	T	C	4: 59,065,174 (GRCm39)	I814V	probably benign	Het
Smg1	T	C	7: 117,744,829 (GRCm39)	I3108V	probably benign	Het
Spink5	A	T	18: 44,125,947 (GRCm39)	I409F	probably benign	Het
Syt13	C	A	2: 92,783,899 (GRCm39)	L390M	probably damaging	Het
Taf5	T	A	19: 47,064,212 (GRCm39)	V385E	probably damaging	Het
Tdrd9	T	A	12: 112,006,863 (GRCm39)	V909E	probably damaging	Het
Tex9	G	A	9: 72,387,940 (GRCm39)		probably benign	Het
Timm10b	G	T	7: 105,327,537 (GRCm39)	E61*	probably null	Het
Tmprss11g	A	T	5: 86,646,352 (GRCm39)	F72I	probably benign	Het
Trank1	T	C	9: 111,219,880 (GRCm39)	C2206R	probably benign	Het
Uba52rt	C	A	4: 3,973,346 (GRCm39)	R72L	probably benign	Het
Unc45b	GC	G	11: 82,816,814 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,991,910 (GRCm39)	S215P	possibly damaging	Het
Usp48	C	T	4: 137,348,470 (GRCm39)		probably benign	Het
Vmn1r81	A	G	7: 11,993,882 (GRCm39)	V242A	possibly damaging	Het
Zgrf1	T	A	3: 127,389,673 (GRCm39)		probably null	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
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
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'- GCAACGAGTGTGGTAAAGCAT -3'
(R):5'- CACATTCTATGCAATGATAGGGTTT -3'

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

Posted On

2020-07-13