Mutagenetix > Incidental Mutation

Incidental Mutation 'R3852:AI429214'

275976

Institutional Source

Beutler Lab

Gene Symbol

AI429214

Ensembl Gene

ENSMUSG00000074384

Gene Name

expressed sequence AI429214

Synonyms

MMRRC Submission

040784-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R3852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36993604-36995533 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36994442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 248 (D248G)

Ref Sequence

ENSEMBL: ENSMUSP00000096424 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098825
AA Change: D248G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: D248G

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

0.3227

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,560,439	V685A	probably damaging	Het
Abhd4	T	C	14: 54,265,367	Y44H	probably damaging	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Ccdc34	A	G	2: 110,032,428	K193E	possibly damaging	Het
Dhcr24	A	G	4: 106,573,873	E253G	probably benign	Het
Dnah6	A	G	6: 73,127,927	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,485,924	Y186*	probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Dusp7	T	A	9: 106,373,893	S406T	probably benign	Het
Gga3	T	A	11: 115,587,542	T475S	probably benign	Het
Gm10271	T	A	10: 116,956,874	K36*	probably null	Het
Gm572	G	A	4: 148,668,872	E325K	possibly damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
Igf1	A	T	10: 87,915,319	K126*	probably null	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Klhl1	A	T	14: 96,280,205	M345K	probably benign	Het
Lrp2	A	G	2: 69,537,565	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,261,960	T757M	probably benign	Het
Mios	T	A	6: 8,216,453	I459K	probably benign	Het
Mrps11	T	C	7: 78,790,645	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,416,395	S68T	probably benign	Het
Mstn	C	T	1: 53,061,971	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,626	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452	S914P	probably damaging	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Olfr547	C	A	7: 102,535,280	H178N	probably benign	Het
Olfr585	T	C	7: 103,098,184	S148P	probably damaging	Het
Pcdh17	C	T	14: 84,447,259	Q389*	probably null	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Prr14l	T	C	5: 32,830,345	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,587,576	M534K	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,464,091	T22M	probably benign	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Tas2r104	A	T	6: 131,684,925	C274S	probably benign	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Trim43c	T	A	9: 88,840,401	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,369,413	I411K	possibly damaging	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,955,024	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,545,027	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,848,131	I217T	probably damaging	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
R3411:AI429214	UTSW	8	36993917	missense	probably benign	0.00
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'- ATCCCTGATGAACTGTGGAAC -3'
(R):5'- ACCTCCTATCTGGTTGGACG -3'

Sequencing Primer
(F):5'- CTATTTGGAAAACACGAGAGCGACTC -3'
(R):5'- CGTGTGAGTTGAGAATCATTAAAAAG -3'

Posted On

2015-04-06