Mutagenetix > Incidental Mutation

Incidental Mutation 'R3411:AI429214'

267720

Institutional Source

Beutler Lab

Gene Symbol

AI429214

Ensembl Gene

ENSMUSG00000074384

Gene Name

expressed sequence AI429214

Synonyms

MMRRC Submission

040629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R3411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36993604-36995533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36993917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 73 (S73L)

Ref Sequence

ENSEMBL: ENSMUSP00000096424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098825]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098825
AA Change: S73L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: S73L

Domain	Start	End	E-Value	Type
low complexity region	72	86	N/A	INTRINSIC
Pfam:DUF4606	175	277	3.7e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209814

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,419,822	V675D	possibly damaging	Het
Adamts16	T	C	13: 70,753,226	T911A	probably benign	Het
Adgra1	T	C	7: 139,847,703	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,001,930	V326A	probably damaging	Het
Aff1	T	A	5: 103,754,706	M1K	probably null	Het
Apc	C	A	18: 34,269,259		probably benign	Het
Apcs	T	C	1: 172,894,563	Y72C	probably damaging	Het
Arid4a	T	C	12: 71,061,525		probably benign	Het
Armcx4	C	A	X: 134,691,025	Q561K	probably benign	Het
Atp5o	C	T	16: 91,928,906	R64H	probably damaging	Het
Bank1	G	A	3: 136,247,773		probably benign	Het
Ccdc150	A	G	1: 54,356,773	D805G	probably benign	Het
Ccdc88a	T	A	11: 29,486,006	C10S	probably damaging	Het
Dnah1	A	T	14: 31,269,817	M3076K	possibly damaging	Het
Dnpep	A	G	1: 75,316,626	V33A	probably damaging	Het
Egfem1	C	T	3: 29,583,021	T202I	probably damaging	Het
Fam120b	T	A	17: 15,431,635		probably benign	Het
Frem1	T	C	4: 82,963,179	T1263A	possibly damaging	Het
Gm6802	C	A	12: 19,490,620		noncoding transcript	Het
Golga2	C	A	2: 32,302,942	A424E	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Grik5	T	C	7: 25,062,972	D198G	probably benign	Het
Hcrtr2	A	G	9: 76,233,008	F333L	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Htr1b	A	C	9: 81,632,041	V171G	probably benign	Het
Kalrn	G	T	16: 34,212,272	D1117E	probably benign	Het
Kcp	T	C	6: 29,482,846	N1408S	possibly damaging	Het
Klhl7	G	T	5: 24,138,321	V212L	probably damaging	Het
Klra17	T	A	6: 129,874,846	N21I	probably damaging	Het
Lrrc8d	A	T	5: 105,826,706		noncoding transcript	Het
Mast2	C	G	4: 116,310,910	E881Q	possibly damaging	Het
Mcm6	T	C	1: 128,351,585	T155A	probably benign	Het
Mslnl	T	C	17: 25,744,517	F326L	probably benign	Het
Nlrp4c	A	G	7: 6,092,570	K816E	possibly damaging	Het
Olfr1047	T	C	2: 86,228,642	S110G	probably benign	Het
Olfr1453	G	C	19: 13,028,047	A94G	probably benign	Het
Olfr1510	T	A	14: 52,410,361	R170S	possibly damaging	Het
Olfr494	A	T	7: 108,368,344	I285F	possibly damaging	Het
Otoa	A	G	7: 121,122,043	Q427R	probably damaging	Het
Pcdhb6	A	G	18: 37,335,892	E622G	probably damaging	Het
Pdzd8	A	G	19: 59,345,413	Y59H	probably damaging	Het
Psmc3	A	C	2: 91,055,918	D159A	probably damaging	Het
Ripk4	T	C	16: 97,743,957	T497A	probably benign	Het
Rpn2	C	A	2: 157,290,652	A108E	possibly damaging	Het
Serpina3n	A	G	12: 104,411,277	E263G	possibly damaging	Het
Six4	A	G	12: 73,112,883	F101S	probably damaging	Het
Slc16a4	G	A	3: 107,300,872	E233K	probably benign	Het
Smu1	T	C	4: 40,752,008	T183A	probably benign	Het
Sptb	T	G	12: 76,610,815	K1311Q	possibly damaging	Het
Styxl1	T	C	5: 135,765,764	Y83C	probably damaging	Het
Sypl2	C	T	3: 108,216,729	V166I	possibly damaging	Het
Tal2	A	G	4: 53,785,843	N8S	probably damaging	Het
Tenm4	T	C	7: 96,852,530	Y1314H	probably damaging	Het
Ttn	A	C	2: 76,942,405	N2415K	possibly damaging	Het
Usp53	T	C	3: 122,949,858		probably null	Het
Vmn2r65	T	C	7: 84,946,688	I263V	probably benign	Het

Other mutations in AI429214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:AI429214	APN	8	36994229	missense	probably damaging	0.98
IGL02508:AI429214	APN	8	36994086	missense	probably benign
R0973:AI429214	UTSW	8	36994319	missense	probably benign	0.29
R0973:AI429214	UTSW	8	36994319	missense	probably benign	0.29
R0974:AI429214	UTSW	8	36994319	missense	probably benign	0.29
R2007:AI429214	UTSW	8	36993769	missense	probably benign	0.29
R2113:AI429214	UTSW	8	36994000	nonsense	probably null
R2126:AI429214	UTSW	8	36994208	missense	probably benign	0.00
R2254:AI429214	UTSW	8	36993766	missense	possibly damaging	0.91
R3409:AI429214	UTSW	8	36993917	missense	probably benign	0.00
R3852:AI429214	UTSW	8	36994442	missense	probably damaging	1.00
R4657:AI429214	UTSW	8	36994391	missense	probably damaging	1.00
R5766:AI429214	UTSW	8	36994229	frame shift	probably null
R5767:AI429214	UTSW	8	36994229	frame shift	probably null
R6248:AI429214	UTSW	8	36994124	missense	probably damaging	1.00
R6888:AI429214	UTSW	8	36993833	missense	possibly damaging	0.85
R8018:AI429214	UTSW	8	36993666	start gained	probably benign
R8817:AI429214	UTSW	8	36994114	missense	probably benign	0.05
R8985:AI429214	UTSW	8	36993666	start gained	probably benign
R9564:AI429214	UTSW	8	36993913	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACTGAGTCCGAGACAATGGG -3'
(R):5'- AGGGCATCCAGTTCTTCTGC -3'

Sequencing Primer
(F):5'- TGGCCACCTGCTCAGAAG -3'
(R):5'- CAGTTCTTCTGCGGATTCCTTAGG -3'

Posted On

2015-02-18