Mutagenetix > Incidental Mutation

Incidental Mutation 'R6877:AU041133'

536474

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

044973-MU

Accession Numbers

Essential gene?

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

Stock #

R6877 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81987405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 352 (T352A)

Ref Sequence

ENSEMBL: ENSMUSP00000100951 (fasta)

Gene Model

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

AlphaFold

A0A0J9YVH3

Predicted Effect

probably benign
Transcript: ENSMUST00000105314
AA Change: T352A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: T352A

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 benign
Transcript: ENSMUST00000201286
AA Change: T353A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: T353A

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: 98.2%

Validation Efficiency

94% (47/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,078,274 (GRCm39)	H650R	probably benign	Het
Adgrl2	T	C	3: 148,522,922 (GRCm39)	Y1367C	probably damaging	Het
Aqr	A	T	2: 113,947,052 (GRCm39)	C1043*	probably null	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
Bcl7a	A	G	5: 123,489,958 (GRCm39)	T41A	probably damaging	Het
Btbd10	A	T	7: 112,921,967 (GRCm39)	F298Y	probably damaging	Het
Ccdc57	G	A	11: 120,764,528 (GRCm39)	T749I	probably benign	Het
Clcnkb	T	C	4: 141,132,143 (GRCm39)	N646S	probably benign	Het
Dcst1	T	C	3: 89,257,667 (GRCm39)	D701G	probably benign	Het
Dnah14	C	A	1: 181,455,997 (GRCm39)	T1001K	possibly damaging	Het
Dnah8	G	T	17: 30,965,933 (GRCm39)	G2422W	probably damaging	Het
Dyrk2	A	T	10: 118,696,328 (GRCm39)	I310N	probably damaging	Het
Eif5b	A	T	1: 38,089,320 (GRCm39)	N1099Y	probably damaging	Het
Elp2	T	A	18: 24,768,033 (GRCm39)	N762K	probably benign	Het
Esco2	A	G	14: 66,068,494 (GRCm39)	V272A	probably benign	Het
Fat3	A	C	9: 15,910,564 (GRCm39)	S1813A	probably benign	Het
Igf2r	A	G	17: 12,916,228 (GRCm39)	V1710A	probably damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,194,784 (GRCm39)	T185A	possibly damaging	Het
Litafd	G	A	16: 8,501,173 (GRCm39)	V10I	unknown	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nol4	A	T	18: 22,852,186 (GRCm39)	C460S	probably benign	Het
Ntaq1	C	A	15: 58,017,074 (GRCm39)	P163Q	probably damaging	Het
Or10g3b	T	A	14: 52,587,270 (GRCm39)	I78F	possibly damaging	Het
Or4f14b	T	C	2: 111,775,184 (GRCm39)	I206V	probably benign	Het
Ovch2	G	A	7: 107,389,315 (GRCm39)	A371V	probably benign	Het
Pcdhb4	A	G	18: 37,442,625 (GRCm39)	D645G	probably damaging	Het
Pcnt	A	C	10: 76,269,851 (GRCm39)	S207A	possibly damaging	Het
Pex1	A	T	5: 3,685,505 (GRCm39)	Q1211L	probably benign	Het
Pnn	A	G	12: 59,115,553 (GRCm39)	E99G	probably damaging	Het
Prkrip1	A	T	5: 136,218,478 (GRCm39)		probably null	Het
Rnf133	A	G	6: 23,649,486 (GRCm39)	F191L	probably benign	Het
Scn10a	T	C	9: 119,438,848 (GRCm39)	T1674A	probably damaging	Het
Sdccag8	G	A	1: 176,839,501 (GRCm39)	V682M	probably damaging	Het
Spi1	T	C	2: 90,944,741 (GRCm39)	L162P	probably damaging	Het
Sptan1	C	G	2: 29,920,985 (GRCm39)	N2432K	probably damaging	Het
Stx2	A	G	5: 129,064,884 (GRCm39)	V271A	probably benign	Het
Sumf2	G	A	5: 129,878,867 (GRCm39)	D68N	probably damaging	Het
Tsc22d4	A	G	5: 137,760,855 (GRCm39)	E92G	possibly damaging	Het
Ube3c	G	T	5: 29,792,316 (GRCm39)	R37L	probably benign	Het
Ubr5	A	G	15: 38,002,814 (GRCm39)	S1446P	probably damaging	Het
Veph1	T	C	3: 66,162,505 (GRCm39)	N51S	probably damaging	Het
Vmn1r82	T	C	7: 12,039,290 (GRCm39)	F70L	possibly damaging	Het
Vmn2r92	A	G	17: 18,389,084 (GRCm39)	N466S	probably damaging	Het
Vwf	T	A	6: 125,634,164 (GRCm39)	V2153D	possibly damaging	Het
Yeats2	A	G	16: 19,998,344 (GRCm39)	T300A	probably benign	Het
Zc3h12d	G	T	10: 7,715,735 (GRCm39)	R46L	probably damaging	Het
Zfp516	T	C	18: 82,973,916 (GRCm39)	I38T	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	Het
Zpld1	C	T	16: 55,072,034 (GRCm39)	G75E	probably 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
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
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'- TGCACGTCATAGAAGTCTTCAAAATC -3'
(R):5'- AAGCGACGTGTAAAGGCTT -3'

Sequencing Primer
(F):5'- CAATGTGGTAAGGCCTTTGCATATAG -3'
(R):5'- ACGTGTAAAGGCTTTACCGC -3'

Posted On

2018-10-18