Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:AU041133'

735167

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81963847-81988899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81986679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 111 (C111S)

Ref Sequence

ENSEMBL: ENSMUSP00000144661 (fasta)

Gene Model

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

AlphaFold

A0A0J9YVH3

Predicted Effect

probably benign
Transcript: ENSMUST00000105314
AA Change: C110S

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: C110S

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: C111S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: C111S

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,119,283 (GRCm39)	I1009N	possibly damaging	Het
Abtb3	C	A	10: 85,224,079 (GRCm39)	A296E	unknown	Het
Adcy8	T	A	15: 64,571,095 (GRCm39)	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,581,433 (GRCm39)	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,588 (GRCm39)	N277K	probably damaging	Het
Ank2	A	T	3: 126,740,149 (GRCm39)	S1912T	unknown	Het
Ank3	T	A	10: 69,733,957 (GRCm39)	N740K	unknown	Het
Atp13a3	A	C	16: 30,159,051 (GRCm39)	I800S	probably benign	Het
Azi2	T	A	9: 117,884,924 (GRCm39)	I211N	probably benign	Het
Camk2b	T	C	11: 5,922,408 (GRCm39)	N480S	probably damaging	Het
Card6	A	G	15: 5,128,702 (GRCm39)	V898A	probably benign	Het
Copb2	T	A	9: 98,461,081 (GRCm39)	M381K	probably damaging	Het
Cplx3	T	C	9: 57,523,060 (GRCm39)	D133G	probably damaging	Het
Crisp1	A	T	17: 40,616,071 (GRCm39)	M102K	probably damaging	Het
Dcxr	A	T	11: 120,618,084 (GRCm39)		probably benign	Het
Dennd5a	C	A	7: 109,500,374 (GRCm39)	R917L	probably benign	Het
Egflam	T	A	15: 7,279,525 (GRCm39)	T494S	probably benign	Het
Fkbpl	T	A	17: 34,864,691 (GRCm39)	M153K	probably benign	Het
Helz2	A	T	2: 180,882,616 (GRCm39)	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,477,303 (GRCm39)	T194A	probably benign	Het
Lrrc27	T	C	7: 138,807,913 (GRCm39)	M340T	probably benign	Het
Lum	T	A	10: 97,404,157 (GRCm39)	S17R	probably benign	Het
Malrd1	A	G	2: 15,847,405 (GRCm39)	K1182E	unknown	Het
Map3k2	A	T	18: 32,333,069 (GRCm39)	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,415,480 (GRCm39)	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,793,876 (GRCm39)	V387L	probably benign	Het
Nr1h4	T	C	10: 89,290,618 (GRCm39)	D474G	probably benign	Het
Nup205	T	C	6: 35,163,468 (GRCm39)	I144T	possibly damaging	Het
Or10ag57	G	T	2: 87,218,508 (GRCm39)	C153F	probably damaging	Het
Or1e17	C	A	11: 73,831,986 (GRCm39)	L305I	probably benign	Het
Or2a56	A	T	6: 42,933,091 (GRCm39)	I220F	probably damaging	Het
Or4f15	G	A	2: 111,814,194 (GRCm39)	S75L	possibly damaging	Het
Or4n4	G	A	14: 50,519,701 (GRCm39)	T3I	probably benign	Het
Or51f1	T	C	7: 102,506,093 (GRCm39)	Y132C	probably benign	Het
Pkn3	C	T	2: 29,973,290 (GRCm39)	R371*	probably null	Het
Plin2	A	T	4: 86,586,742 (GRCm39)	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 146,917,769 (GRCm39)	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,008,910 (GRCm39)	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,267,860 (GRCm39)	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,117,386 (GRCm39)	V316L	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spata31d1d	T	C	13: 59,874,637 (GRCm39)	H966R	possibly damaging	Het
Speg	C	A	1: 75,399,358 (GRCm39)	D2268E	probably benign	Het
Srp54c	A	G	12: 55,296,811 (GRCm39)	I170V	probably benign	Het
Syde2	A	G	3: 145,704,364 (GRCm39)	R439G	probably benign	Het
Tcof1	T	C	18: 60,949,558 (GRCm39)	K1155R	unknown	Het
Tmem184c	T	C	8: 78,323,087 (GRCm39)	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,947,669 (GRCm39)	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,625,303 (GRCm39)	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007 (GRCm39)	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,150,404 (GRCm39)	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,620,399 (GRCm39)	V711E	probably damaging	Het
Vps16	T	C	2: 130,282,405 (GRCm39)	F413L	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Wasf1	T	C	10: 40,812,693 (GRCm39)	I494T	unknown	Het
Wdr36	A	G	18: 32,985,700 (GRCm39)	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,554,411 (GRCm39)	C134*	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
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

Predicted Primers

PCR Primer
(F):5'- TTAGTGAGAGGAACAGTTCATAGGA -3'
(R):5'- GGGTTTCTCTCCAGTGTGC -3'

Sequencing Primer
(F):5'- TCTCTATAGCACATGTCAAGGGG -3'
(R):5'- CACAGTCACTGCAATCATAGGGTTTC -3'

Posted On

2022-11-14