Mutagenetix > Incidental Mutation

Incidental Mutation 'R1924:AU041133'

213291

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

039942-MU

Accession Numbers

Essential gene?

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

Stock #

R1924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 81987101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 251 (C251*)

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: C250*

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: C250*

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: C251*

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: C251*

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

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

94% (63/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,368,781 (GRCm39)	M1666I	possibly damaging	Het
Adamts13	A	T	2: 26,874,153 (GRCm39)	Q434L	probably damaging	Het
Adgrg3	G	A	8: 95,762,562 (GRCm39)	R204H	probably benign	Het
Arhgef28	A	C	13: 98,073,324 (GRCm39)		probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
C4b	A	G	17: 34,948,631 (GRCm39)	C1560R	probably damaging	Het
Cacna1g	A	G	11: 94,334,880 (GRCm39)	I809T	possibly damaging	Het
Cacna1s	C	A	1: 136,016,755 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,688,857 (GRCm39)	S151G	probably damaging	Het
Capn1	T	C	19: 6,040,086 (GRCm39)		probably null	Het
Capn9	A	G	8: 125,302,965 (GRCm39)	S28G	probably benign	Het
Ccdc73	A	G	2: 104,822,637 (GRCm39)	D862G	probably damaging	Het
Cdk17	T	C	10: 93,061,979 (GRCm39)	L237P	probably damaging	Het
Cfap251	A	G	5: 123,440,802 (GRCm39)	I1120V	possibly damaging	Het
Chad	A	C	11: 94,456,384 (GRCm39)	N154T	possibly damaging	Het
Cog1	C	T	11: 113,547,038 (GRCm39)	T544I	probably benign	Het
Cracd	A	T	5: 77,006,470 (GRCm39)	T944S	unknown	Het
Ctnna2	T	C	6: 76,931,830 (GRCm39)	E590G	possibly damaging	Het
Dapk2	T	A	9: 66,072,642 (GRCm39)	M6K	probably benign	Het
Dchs1	T	C	7: 105,421,487 (GRCm39)	E311G	possibly damaging	Het
Ddr2	T	A	1: 169,809,641 (GRCm39)	T779S	probably benign	Het
Dhtkd1	A	G	2: 5,916,744 (GRCm39)	V644A	probably damaging	Het
Dock2	A	G	11: 34,414,934 (GRCm39)	V147A	possibly damaging	Het
Ear10	A	T	14: 44,160,357 (GRCm39)	*157K	probably null	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gmps	T	G	3: 63,906,049 (GRCm39)	C449G	probably damaging	Het
Grin3a	A	G	4: 49,844,988 (GRCm39)	S32P	possibly damaging	Het
Igkv1-115	A	T	6: 68,138,592 (GRCm39)	D65V	probably damaging	Het
Klk1b4	A	G	7: 43,859,105 (GRCm39)	N41S	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrrc8a	T	A	2: 30,145,262 (GRCm39)	D25E	probably damaging	Het
Muc5b	A	G	7: 141,421,960 (GRCm39)	R4426G	possibly damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myo5a	G	T	9: 75,023,489 (GRCm39)	D17Y	probably damaging	Het
Nat1	C	G	8: 67,944,076 (GRCm39)	L154V	probably benign	Het
Nek3	T	A	8: 22,647,047 (GRCm39)	T163S	probably damaging	Het
Or2w25	G	T	11: 59,503,949 (GRCm39)	R53L	possibly damaging	Het
Or5p80	A	G	7: 108,229,562 (GRCm39)	D121G	probably damaging	Het
Or6c204	A	G	10: 129,023,044 (GRCm39)	I82T	possibly damaging	Het
Or8d2b	T	A	9: 38,789,147 (GRCm39)	I225N	probably damaging	Het
Or8g32	A	T	9: 39,305,163 (GRCm39)	E22D	possibly damaging	Het
Or9s13	T	C	1: 92,548,525 (GRCm39)	L299P	probably damaging	Het
Osr1	T	G	12: 9,629,268 (GRCm39)	L47R	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3ap1	T	A	19: 41,291,053 (GRCm39)	N493I	possibly damaging	Het
Polr3e	T	A	7: 120,539,820 (GRCm39)	N522K	probably damaging	Het
Rabgap1	T	A	2: 37,385,771 (GRCm39)		probably null	Het
Rp1l1	C	A	14: 64,268,992 (GRCm39)	A1526E	probably benign	Het
Scn3a	T	A	2: 65,291,878 (GRCm39)	I1623F	probably damaging	Het
Serpinb9e	A	G	13: 33,437,428 (GRCm39)	T104A	probably benign	Het
Sh3rf3	T	C	10: 58,939,989 (GRCm39)		probably benign	Het
Slc30a3	A	G	5: 31,245,748 (GRCm39)	Y213H	probably damaging	Het
Sptbn4	C	T	7: 27,106,563 (GRCm39)	R955H	probably damaging	Het
Tfb1m	A	T	17: 3,569,946 (GRCm39)	Y307N	probably damaging	Het
Tnrc6b	G	T	15: 80,768,407 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ulk1	A	G	5: 110,938,936 (GRCm39)	Y501H	probably damaging	Het
Zbtb17	A	G	4: 141,191,914 (GRCm39)	H315R	probably damaging	Het
Zeb2	A	G	2: 44,892,624 (GRCm39)	Y142H	probably damaging	Het
Zfr	T	C	15: 12,160,715 (GRCm39)	S763P	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
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
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'- AAATCCTTTCCAAGTCGCAATTCT -3'
(R):5'- TGCAAAGGCTTTACCACATTCATT -3'

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

Posted On

2014-07-14