Mutagenetix > Incidental Mutations

Incidental Mutation 'R2400:AU041133'

248658

Institutional Source

Beutler Lab

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

MMRRC Submission

040366-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82128013-82153065 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 82150908 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 132 (K132*)

Ref Sequence

ENSEMBL: ENSMUSP00000144661 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000105314
AA Change: K131*

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: K131*

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: K132*

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: K132*

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,493,365	T133A	unknown	Het
Adgrl2	G	T	3: 148,851,934	S519R	probably damaging	Het
Bhlhe22	A	G	3: 18,055,451	N222D	probably damaging	Het
Cep72	C	A	13: 74,048,977	A69S	probably damaging	Het
Csn1s2a	T	A	5: 87,780,155		probably null	Het
Dapk1	T	A	13: 60,752,216	F872I	probably benign	Het
Dhx57	T	C	17: 80,260,416	D746G	probably damaging	Het
Dnah17	T	A	11: 118,126,384		probably null	Het
Fgg	A	G	3: 83,008,187	D37G	possibly damaging	Het
Fnip2	G	T	3: 79,479,634	S958R	probably benign	Het
Gfpt1	A	G	6: 87,087,348	D640G	probably damaging	Het
Golgb1	C	A	16: 36,918,466	T2389K	possibly damaging	Het
Hmgcl	C	A	4: 135,952,368		probably null	Het
Mmp11	T	A	10: 75,925,510	T419S	probably benign	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Nkiras1	T	A	14: 18,280,011	V108E	possibly damaging	Het
Pcsk1	T	C	13: 75,090,126	L22P	probably benign	Het
Rnf213	T	C	11: 119,443,195	Y3077H	probably damaging	Het
Sec62	A	G	3: 30,810,532	N182D	unknown	Het
Serpinb5	A	G	1: 106,881,952	T363A	probably damaging	Het
Usf3	T	A	16: 44,215,747	S197T	probably benign	Het
Vmn2r11	T	A	5: 109,052,062	E508D	probably benign	Het
Wdr81	A	G	11: 75,449,035	F1376L	probably benign	Het
Zfp260	T	C	7: 30,104,701	S9P	possibly damaging	Het

Other mutations in AU041133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03403:AU041133	APN	10	82138344	missense	probably damaging	1.00
R0755:AU041133	UTSW	10	82150890	nonsense	probably null
R1924:AU041133	UTSW	10	82151267	nonsense	probably null
R2211:AU041133	UTSW	10	82150921	missense	probably damaging	1.00
R3845:AU041133	UTSW	10	82151318	missense	probably damaging	1.00
R3914:AU041133	UTSW	10	82151815	missense	probably damaging	0.99
R4214:AU041133	UTSW	10	82151389	missense	probably damaging	1.00
R4414:AU041133	UTSW	10	82151482	missense	probably damaging	1.00
R5315:AU041133	UTSW	10	82151672	nonsense	probably null
R5835:AU041133	UTSW	10	82151212	missense	probably damaging	1.00
R6258:AU041133	UTSW	10	82151158	missense	probably damaging	1.00
R6877:AU041133	UTSW	10	82151571	missense	probably benign	0.24
R7127:AU041133	UTSW	10	82150866	missense	probably benign	0.14
R7200:AU041133	UTSW	10	82151101	missense	possibly damaging	0.94
R7228:AU041133	UTSW	10	82151271	missense	possibly damaging	0.93
R7828:AU041133	UTSW	10	82151220	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTTATTGCTGTGGAAACATCT -3'
(R):5'- GCAAAGGCTTTACCACATTGGT -3'

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

Posted On

2014-11-11