Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:AI429214'

241879

Institutional Source

Beutler Lab

Gene Symbol

AI429214

Ensembl Gene

ENSMUSG00000074384

Gene Name

expressed sequence AI429214

Synonyms

MMRRC Submission

040254-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2254 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37460758-37462687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37460920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 23 (D23Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096424 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098825
AA Change: D23Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: D23Y

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,311,365 (GRCm39)	E260G	probably benign	Het
Alms1	A	G	6: 85,596,830 (GRCm39)	Y1021C	probably damaging	Het
Ang5	A	G	14: 44,200,074 (GRCm39)	D46G	probably benign	Het
Ano9	T	A	7: 140,683,003 (GRCm39)	D635V	probably benign	Het
Apob	C	T	12: 8,061,256 (GRCm39)	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,025,390 (GRCm39)	E63G	probably benign	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Cdcp3	G	T	7: 130,824,634 (GRCm39)	C243F	probably damaging	Het
Cdh2	A	T	18: 16,776,985 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,958,405 (GRCm39)	V255I	probably damaging	Het
Dnhd1	T	A	7: 105,352,979 (GRCm39)	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,939,707 (GRCm39)	K137*	probably null	Het
Gdi2	T	A	13: 3,604,400 (GRCm39)		probably null	Het
Glyr1	A	G	16: 4,836,877 (GRCm39)	V429A	probably benign	Het
Gm5938	T	A	X: 77,172,161 (GRCm39)		probably null	Het
Golt1b	T	C	6: 142,341,979 (GRCm39)	L121P	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Ifi204	G	A	1: 173,589,296 (GRCm39)	T45M	possibly damaging	Het
Il18r1	A	G	1: 40,530,380 (GRCm39)	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,187,722 (GRCm39)		probably null	Het
Kitl	G	A	10: 99,915,993 (GRCm39)		probably null	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Lax1	A	G	1: 133,607,971 (GRCm39)	S257P	probably damaging	Het
Lepr	T	C	4: 101,672,309 (GRCm39)	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,612,315 (GRCm39)	R356H	probably damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Med11	T	C	11: 70,342,921 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,954,485 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,271 (GRCm39)	V294A	probably damaging	Het
Ovch2	A	G	7: 107,389,402 (GRCm39)	V342A	probably benign	Het
Ovgp1	A	G	3: 105,894,228 (GRCm39)		probably benign	Het
Oxtr	A	T	6: 112,466,067 (GRCm39)	L231Q	probably damaging	Het
Prap1	A	G	7: 139,676,075 (GRCm39)	T30A	probably damaging	Het
Scg2	G	A	1: 79,414,217 (GRCm39)	P169S	probably damaging	Het
Scube2	A	G	7: 109,424,666 (GRCm39)	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,592,571 (GRCm39)	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,041,858 (GRCm39)	C450G	probably benign	Het
Tas2r120	A	T	6: 132,634,572 (GRCm39)	Q218L	probably benign	Het
Tbx15	A	G	3: 99,259,190 (GRCm39)	T354A	possibly damaging	Het
Trim24	A	G	6: 37,935,612 (GRCm39)	T868A	probably benign	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr20rt	T	A	12: 65,273,007 (GRCm39)	W56R	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp40	T	C	17: 23,397,344 (GRCm39)	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,768,662 (GRCm39)	H317Y	probably damaging	Het

Other mutations in AI429214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:AI429214	APN	8	37,461,383 (GRCm39)	missense	probably damaging	0.98
IGL02508:AI429214	APN	8	37,461,240 (GRCm39)	missense	probably benign
R0973:AI429214	UTSW	8	37,461,473 (GRCm39)	missense	probably benign	0.29
R0973:AI429214	UTSW	8	37,461,473 (GRCm39)	missense	probably benign	0.29
R0974:AI429214	UTSW	8	37,461,473 (GRCm39)	missense	probably benign	0.29
R2007:AI429214	UTSW	8	37,460,923 (GRCm39)	missense	probably benign	0.29
R2113:AI429214	UTSW	8	37,461,154 (GRCm39)	nonsense	probably null
R2126:AI429214	UTSW	8	37,461,362 (GRCm39)	missense	probably benign	0.00
R3409:AI429214	UTSW	8	37,461,071 (GRCm39)	missense	probably benign	0.00
R3411:AI429214	UTSW	8	37,461,071 (GRCm39)	missense	probably benign	0.00
R3852:AI429214	UTSW	8	37,461,596 (GRCm39)	missense	probably damaging	1.00
R4657:AI429214	UTSW	8	37,461,545 (GRCm39)	missense	probably damaging	1.00
R5766:AI429214	UTSW	8	37,461,383 (GRCm39)	frame shift	probably null
R5767:AI429214	UTSW	8	37,461,383 (GRCm39)	frame shift	probably null
R6248:AI429214	UTSW	8	37,461,278 (GRCm39)	missense	probably damaging	1.00
R6888:AI429214	UTSW	8	37,460,987 (GRCm39)	missense	possibly damaging	0.85
R8018:AI429214	UTSW	8	37,460,820 (GRCm39)	start gained	probably benign
R8817:AI429214	UTSW	8	37,461,268 (GRCm39)	missense	probably benign	0.05
R8985:AI429214	UTSW	8	37,460,820 (GRCm39)	start gained	probably benign
R9564:AI429214	UTSW	8	37,461,067 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGCCATGTCAACCAGGAAAG -3'
(R):5'- AGAGTGAAAGTTCTGACTGCTCG -3'

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

Posted On

2014-10-16