Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:AI429214'

222501

Institutional Source

Beutler Lab

Gene Symbol

AI429214

Ensembl Gene

ENSMUSG00000074384

Gene Name

expressed sequence AI429214

Synonyms

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

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

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36993604-36995533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36993769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 24 (V24I)

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: V24I

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: V24I

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,542,892	N1387K	probably benign	Het
Abca13	T	C	11: 9,191,987	F8L	probably benign	Het
Abcg5	G	T	17: 84,669,920	L270M	probably damaging	Het
Acad10	A	G	5: 121,634,751	L489S	probably damaging	Het
Acsf2	G	A	11: 94,571,640	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,177,856	E282V	probably damaging	Het
Adcy4	C	T	14: 55,778,313	G440R	possibly damaging	Het
Angptl3	T	C	4: 99,037,397	I320T	probably damaging	Het
Apoa5	A	T	9: 46,270,367	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,609,305	V811G	probably damaging	Het
Bard1	C	T	1: 71,031,403	V641I	probably benign	Het
Calb2	T	C	8: 110,168,070	E23G	probably benign	Het
Cdkl4	A	G	17: 80,556,301		probably benign	Het
Cep85l	A	G	10: 53,278,075		probably benign	Het
Chd1	G	T	17: 15,731,006	G281V	probably damaging	Het
Col17a1	C	T	19: 47,667,702	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833	D66V	probably damaging	Het
Csde1	A	T	3: 103,044,791	I204L	probably damaging	Het
Dchs1	A	T	7: 105,755,325	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,213,278	V428A	probably benign	Het
Dgkh	T	A	14: 78,603,049	D530V	probably benign	Het
Dis3l	A	T	9: 64,308,276		probably null	Het
Dst	T	G	1: 34,226,012		probably benign	Het
Eml6	C	T	11: 29,848,814		probably null	Het
En1	A	T	1: 120,603,404	E124D	probably benign	Het
Exo1	G	A	1: 175,908,530	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,778,748		probably benign	Het
Foxp2	G	A	6: 15,396,819	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,697,166	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,212,618	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,500,831	I155T	unknown	Het
Hmcn2	A	G	2: 31,438,255	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,319,513		probably benign	Het
Hpx	G	A	7: 105,595,574	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,520,548	E151A	probably benign	Het
Krt6b	A	T	15: 101,678,127	L309H	probably damaging	Het
Lce1c	G	T	3: 92,680,458	C64F	unknown	Het
Maats1	T	C	16: 38,298,254	I728V	probably benign	Het
March6	C	T	15: 31,461,941		probably null	Het
Myt1	C	A	2: 181,795,759	R88S	probably benign	Het
Nemp1	A	G	10: 127,693,577	S194G	probably benign	Het
Nphp4	A	G	4: 152,554,654	K914R	probably damaging	Het
Olfr410	T	A	11: 74,334,386	T282S	possibly damaging	Het
Osbp	T	C	19: 11,973,901	M270T	probably benign	Het
Parg	T	C	14: 32,210,574	M457T	possibly damaging	Het
Phf20	T	C	2: 156,287,954	M482T	probably benign	Het
Pik3c2a	G	A	7: 116,342,237	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,579,785	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,967,255	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,320,236	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,993,540	T65S	probably benign	Het
Sipa1l2	G	A	8: 125,439,437	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,227,048	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,928,629	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,571,374	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,350,123	F301S	probably damaging	Het
Tmem233	A	C	5: 116,051,437	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,332,545	D193G	probably damaging	Het
Tprkb	T	C	6: 85,933,048		probably benign	Het
Tram1l1	A	G	3: 124,321,839	H216R	possibly damaging	Het
Ttn	A	G	2: 76,734,140	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,409,251	N25S	possibly damaging	Het
Unc80	C	A	1: 66,503,776	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,632,587	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,347,953	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,586,644	I995V	probably null	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
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
R3411: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'- TGCCATGTCAACCAGGAAAGG -3'
(R):5'- AAGAGTGAAAGTTCTGACTGCTCG -3'

Sequencing Primer
(F):5'- AGAAGAAGCTCGCGGCACTC -3'
(R):5'- GAAAGTTCTGACTGCTCGTCTTGC -3'

Posted On

2014-08-25