Mutagenetix > Incidental Mutations

Incidental Mutation 'R1585:AW551984'

177442

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

039622-MU

Accession Numbers

Genbank: NM_178737; MGI: 2143322

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39587396-39604403 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 39599336 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 234 (Y234*)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]

Predicted Effect

probably null
Transcript: ENSMUST00000042485
AA Change: Y234*

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: Y234*

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119722
AA Change: Y234*

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: Y234*

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130829

SMART Domains

Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
Pfam:VIT_2	5	52	1.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136814

Predicted Effect

probably benign
Transcript: ENSMUST00000141370

SMART Domains

Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	G	A	8: 45,956,478	S268L	probably benign	Het
2310057J18Rik	T	A	10: 28,982,522	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,427,175		probably benign	Het
Aadat	A	T	8: 60,526,680	D192V	possibly damaging	Het
Akap12	A	G	10: 4,353,640	D150G	probably benign	Het
Amigo3	A	T	9: 108,054,032	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,899,651	S60P	probably benign	Het
Apol7e	G	A	15: 77,717,829	S209N	probably damaging	Het
Bcam	A	T	7: 19,760,186	D393E	probably damaging	Het
Card9	A	G	2: 26,354,386	L444P	probably benign	Het
Ccar1	T	C	10: 62,751,001	E886G	unknown	Het
Ccnb2	A	T	9: 70,410,277		probably null	Het
Cd276	T	C	9: 58,535,555	S206G	probably damaging	Het
Cds1	T	A	5: 101,817,962		probably benign	Het
Chuk	T	C	19: 44,077,373	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,650,837	N1090D	probably benign	Het
Col3a1	A	T	1: 45,327,866		probably null	Het
Crispld1	G	T	1: 17,750,800	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,898,867	R2321W	probably damaging	Het
Dner	T	C	1: 84,585,456	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,901,660	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,977,878		probably benign	Het
Eif3l	T	C	15: 79,084,181	S217P	possibly damaging	Het
Fbxo42	T	A	4: 141,198,106		probably benign	Het
Fhod1	A	T	8: 105,337,325		probably benign	Het
Fzd1	T	A	5: 4,756,278	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,712,195	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,996,209	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,499,540		noncoding transcript	Het
Hnrnph3	A	G	10: 63,015,800		probably null	Het
Hsd17b12	G	T	2: 94,033,976	T262K	probably damaging	Het
Igsf10	G	C	3: 59,330,417	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,809,292	D612G	probably damaging	Het
Ldb1	T	C	19: 46,034,464	T261A	probably damaging	Het
Lep	C	A	6: 29,069,090	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,213,375	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,084,998	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,382,510	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,558,668	D570E	probably benign	Het
Nphp3	G	A	9: 104,009,214	V202I	probably damaging	Het
Nptn	T	A	9: 58,640,790	N159K	probably benign	Het
Olfr1241	T	A	2: 89,482,971	T55S	probably benign	Het
Olfr1245	A	T	2: 89,575,402	V108D	possibly damaging	Het
Olfr568	G	A	7: 102,877,773	V218I	probably benign	Het
Olfr628	A	T	7: 103,732,378	T151S	possibly damaging	Het
Olfr920	A	T	9: 38,756,420	H244L	probably damaging	Het
Pcolce	T	A	5: 137,610,507	R13*	probably null	Het
Pdgfra	A	G	5: 75,192,603	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,235,595	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,778,855	L55P	probably damaging	Het
Rasef	A	G	4: 73,740,337	V513A	probably damaging	Het
Rgs1	T	C	1: 144,245,489		probably null	Het
Rlf	T	C	4: 121,148,291	E1164G	probably benign	Het
Rnf213	A	T	11: 119,463,345	N4016I	probably damaging	Het
Sae1	C	T	7: 16,330,612		probably null	Het
Serping1	A	T	2: 84,771,504	D207E	probably benign	Het
Setd2	T	A	9: 110,551,396	D33E	unknown	Het
Simc1	T	C	13: 54,525,258	M473T	probably benign	Het
Slc30a6	T	A	17: 74,418,615		probably benign	Het
Slc4a5	T	C	6: 83,265,687	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,574	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,960,007	A44D	possibly damaging	Het
Sv2b	G	T	7: 75,147,677	T323K	probably damaging	Het
Sycp2	T	A	2: 178,351,668	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,689,768	M190L	probably benign	Het
Tnrc6a	G	A	7: 123,176,875	V1190I	probably benign	Het
Utrn	A	T	10: 12,436,285	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,291,701	V602M	probably damaging	Het
Wdr7	A	T	18: 63,924,918	I1273L	probably benign	Het
Zfp618	T	C	4: 63,132,938	L652P	probably damaging	Het
Zfp804a	G	A	2: 82,053,751		probably benign	Het

Other mutations in AW551984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:AW551984	APN	9	39592849	missense	probably benign	0.16
IGL00869:AW551984	APN	9	39593434	splice site	probably benign
IGL01411:AW551984	APN	9	39593791	missense	possibly damaging	0.69
IGL01744:AW551984	APN	9	39591272	missense	probably benign	0.01
IGL02102:AW551984	APN	9	39589691	missense	probably damaging	1.00
IGL02149:AW551984	APN	9	39592924	missense	probably benign	0.06
IGL02151:AW551984	APN	9	39592945	missense	probably benign	0.35
IGL02154:AW551984	APN	9	39589102	missense	possibly damaging	0.93
IGL02158:AW551984	APN	9	39599325	missense	probably null	0.99
IGL02574:AW551984	APN	9	39589086	missense	possibly damaging	0.91
IGL02754:AW551984	APN	9	39596626	nonsense	probably null
IGL02754:AW551984	APN	9	39593328	critical splice donor site	probably null
IGL02838:AW551984	APN	9	39594643	missense	probably damaging	1.00
IGL03240:AW551984	APN	9	39589122	missense	probably benign	0.00
IGL03328:AW551984	APN	9	39597116	missense	probably damaging	1.00
IGL03374:AW551984	APN	9	39599766	missense	possibly damaging	0.52
PIT4260001:AW551984	UTSW	9	39592979	missense	probably benign	0.08
R0141:AW551984	UTSW	9	39590644	missense	probably damaging	1.00
R0269:AW551984	UTSW	9	39599950	missense	probably damaging	1.00
R0365:AW551984	UTSW	9	39599321	missense	probably benign	0.14
R0453:AW551984	UTSW	9	39600641	missense	probably damaging	1.00
R0481:AW551984	UTSW	9	39600616	missense	probably null	1.00
R1005:AW551984	UTSW	9	39593733	nonsense	probably null
R2177:AW551984	UTSW	9	39599815	missense	probably benign
R3117:AW551984	UTSW	9	39593360	missense	probably benign	0.08
R3119:AW551984	UTSW	9	39593360	missense	probably benign	0.08
R3162:AW551984	UTSW	9	39593029	missense	probably damaging	1.00
R3162:AW551984	UTSW	9	39593029	missense	probably damaging	1.00
R3836:AW551984	UTSW	9	39597908	unclassified	probably benign
R3837:AW551984	UTSW	9	39597908	unclassified	probably benign
R3839:AW551984	UTSW	9	39597908	unclassified	probably benign
R4299:AW551984	UTSW	9	39592979	missense	probably benign	0.08
R4422:AW551984	UTSW	9	39600077	missense	probably null	0.00
R4713:AW551984	UTSW	9	39597153	missense	probably benign	0.13
R4905:AW551984	UTSW	9	39597158	missense	probably damaging	0.99
R4966:AW551984	UTSW	9	39597176	missense	possibly damaging	0.92
R5022:AW551984	UTSW	9	39597965	missense	probably benign	0.00
R5041:AW551984	UTSW	9	39600598	missense	probably damaging	1.00
R5342:AW551984	UTSW	9	39594551	missense	probably damaging	1.00
R5383:AW551984	UTSW	9	39590698	missense	probably benign
R5443:AW551984	UTSW	9	39598029	missense	possibly damaging	0.94
R5532:AW551984	UTSW	9	39597185	missense	probably damaging	1.00
R5536:AW551984	UTSW	9	39592873	missense	probably benign	0.04
R5586:AW551984	UTSW	9	39591263	missense	probably benign	0.01
R5601:AW551984	UTSW	9	39591267	missense	possibly damaging	0.87
R5618:AW551984	UTSW	9	39590704	missense	probably damaging	1.00
R5701:AW551984	UTSW	9	39592822	missense	probably benign	0.01
R6122:AW551984	UTSW	9	39593755	missense	probably benign	0.00
R6142:AW551984	UTSW	9	39597114	missense	probably benign	0.00
R6272:AW551984	UTSW	9	39598037	missense	probably benign	0.06
R6429:AW551984	UTSW	9	39600614	missense	probably damaging	1.00
R6659:AW551984	UTSW	9	39589099	missense	probably benign	0.00
R6670:AW551984	UTSW	9	39592996	missense	probably damaging	1.00
R6791:AW551984	UTSW	9	39600659	missense	probably damaging	1.00
R7000:AW551984	UTSW	9	39600789	missense	probably benign	0.11
R7077:AW551984	UTSW	9	39591427	missense	probably benign
R7083:AW551984	UTSW	9	39597647	missense	probably damaging	1.00
R7352:AW551984	UTSW	9	39592925	missense	probably benign
R7475:AW551984	UTSW	9	39597940	missense	probably damaging	1.00
R7534:AW551984	UTSW	9	39591481	missense	probably benign	0.03
R7542:AW551984	UTSW	9	39594631	missense	possibly damaging	0.95
R7708:AW551984	UTSW	9	39593755	missense	probably benign	0.00
R7729:AW551984	UTSW	9	39599775	missense	possibly damaging	0.89
R7955:AW551984	UTSW	9	39596664	missense	probably damaging	1.00
R8122:AW551984	UTSW	9	39599369	missense	probably damaging	1.00
R8358:AW551984	UTSW	9	39599355	missense	probably damaging	0.99
R8402:AW551984	UTSW	9	39597653	missense	probably damaging	1.00
Z1088:AW551984	UTSW	9	39590603	nonsense	probably null
ZE80:AW551984	UTSW	9	39593667	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTTAGAGAAGTGTGAGGACCTTCAG -3'
(R):5'- GCTCAGGTAAATAGTGCAAGAGTTCCC -3'

Sequencing Primer
(F):5'- GTGAGGACCTTCAGTATTTCAGAC -3'
(R):5'- TAGTGCAAGAGTTCCCAGTCC -3'

Posted On

2014-04-24