Mutagenetix > Incidental Mutation

Incidental Mutation 'R4805:4931414P19Rik'

370644

Institutional Source

Beutler Lab

Gene Symbol

4931414P19Rik

Ensembl Gene

ENSMUSG00000022179

Gene Name

RIKEN cDNA 4931414P19 gene

Synonyms

MMRRC Submission

041999-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54821120-54843450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54832911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 88 (E88G)

Ref Sequence

ENSEMBL: ENSMUSP00000022786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022786]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022786
AA Change: E88G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: E88G

Domain	Start	End	E-Value	Type
Pfam:DUF4616	2	538	1.5e-263	PFAM

Meta Mutation Damage Score

0.2536

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,950,628 (GRCm39)	Y1508*	probably null	Het
Acaa1b	A	G	9: 118,986,014 (GRCm39)	S17P	probably benign	Het
Arhgef7	G	A	8: 11,881,552 (GRCm39)	E565K	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bpnt1	T	A	1: 185,077,504 (GRCm39)		probably null	Het
Ccnt1	C	T	15: 98,442,189 (GRCm39)	V360I	probably benign	Het
Chd4	T	C	6: 125,105,908 (GRCm39)	S1829P	possibly damaging	Het
Dennd1b	A	T	1: 138,981,122 (GRCm39)	N112I	probably damaging	Het
Fat2	A	T	11: 55,174,805 (GRCm39)	D1969E	probably benign	Het
Flywch1	A	C	17: 23,979,591 (GRCm39)	D394E	probably benign	Het
Gal3st4	T	A	5: 138,263,733 (GRCm39)		probably null	Het
Gm14403	T	C	2: 177,200,492 (GRCm39)	L146P	probably damaging	Het
Gm5283	G	T	3: 17,285,123 (GRCm39)		noncoding transcript	Het
Gpr161	T	A	1: 165,134,029 (GRCm39)	L97Q	probably damaging	Het
Gstm2	A	T	3: 107,892,411 (GRCm39)	M105K	possibly damaging	Het
Hecw2	A	G	1: 53,880,018 (GRCm39)	Y1264H	probably damaging	Het
Ifi206	T	A	1: 173,308,952 (GRCm39)	Q348L	possibly damaging	Het
Ighv1-83	A	T	12: 115,927,489 (GRCm39)	M87K	possibly damaging	Het
Ighv2-7	A	T	12: 113,771,154 (GRCm39)	S44T	probably damaging	Het
Ipo7	T	A	7: 109,650,691 (GRCm39)	N884K	probably benign	Het
Itga2b	T	C	11: 102,358,692 (GRCm39)	N75S	probably benign	Het
Krt20	A	G	11: 99,319,811 (GRCm39)	V431A	unknown	Het
Krt24	A	T	11: 99,174,452 (GRCm39)	I205N	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc31	A	T	3: 30,745,446 (GRCm39)	L67*	probably null	Het
Lrrc37a	A	G	11: 103,395,135 (GRCm39)	F97L	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mgat4d	T	G	8: 84,084,787 (GRCm39)		probably null	Het
Mrgprb3	C	T	7: 48,293,054 (GRCm39)	V166I	probably benign	Het
Myh11	T	A	16: 14,052,329 (GRCm39)	Q379L	possibly damaging	Het
Myh7	T	C	14: 55,222,590 (GRCm39)	S782G	probably benign	Het
Nobox	T	C	6: 43,282,053 (GRCm39)	D340G	probably damaging	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or2t29	G	A	11: 58,433,396 (GRCm39)	T315I	probably benign	Het
Or5b101	T	A	19: 13,005,661 (GRCm39)	I11F	probably benign	Het
Pikfyve	T	A	1: 65,307,959 (GRCm39)	I1845N	probably damaging	Het
Pramel15	A	G	4: 144,103,590 (GRCm39)	Y179H	probably benign	Het
Rad21l	T	G	2: 151,509,927 (GRCm39)	H58P	probably damaging	Het
Scnn1g	T	C	7: 121,345,825 (GRCm39)	L316S	probably damaging	Het
Serpina5	G	A	12: 104,068,460 (GRCm39)	V174I	probably damaging	Het
Shank1	T	C	7: 43,993,135 (GRCm39)	S788P	unknown	Het
Shisal1	T	A	15: 84,301,397 (GRCm39)	H82L	probably damaging	Het
Snap47	A	G	11: 59,319,343 (GRCm39)	V265A	possibly damaging	Het
Steap3	T	A	1: 120,171,616 (GRCm39)	H163L	probably benign	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,173,076 (GRCm39)	F1729L	probably benign	Het
Thsd7b	T	C	1: 130,116,276 (GRCm39)	V1343A	probably benign	Het
Thumpd2	G	A	17: 81,334,130 (GRCm39)	T486I	probably damaging	Het
Ttc41	G	T	10: 86,565,662 (GRCm39)	M405I	possibly damaging	Het
Ttn	T	C	2: 76,577,873 (GRCm39)	D24340G	probably damaging	Het
Vmn1r10	T	G	6: 57,090,602 (GRCm39)	F65V	possibly damaging	Het
Vmn2r118	G	T	17: 55,899,581 (GRCm39)	D774E	probably damaging	Het
Vmn2r13	C	T	5: 109,304,331 (GRCm39)	C700Y	probably damaging	Het
Wsb1	A	C	11: 79,131,217 (GRCm39)	M393R	possibly damaging	Het
Zmat3	A	G	3: 32,397,504 (GRCm39)	Y214H	probably benign	Het
Zswim3	C	T	2: 164,662,099 (GRCm39)	T193I	possibly damaging	Het

Other mutations in 4931414P19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:4931414P19Rik	APN	14	54,833,035 (GRCm39)	missense	possibly damaging	0.56
IGL01448:4931414P19Rik	APN	14	54,823,417 (GRCm39)	missense	possibly damaging	0.77
IGL01934:4931414P19Rik	APN	14	54,823,112 (GRCm39)	missense	probably damaging	1.00
IGL02194:4931414P19Rik	APN	14	54,828,812 (GRCm39)	nonsense	probably null
IGL02721:4931414P19Rik	APN	14	54,823,202 (GRCm39)	missense	probably damaging	1.00
IGL03124:4931414P19Rik	APN	14	54,832,596 (GRCm39)	missense	probably benign	0.00
R0575:4931414P19Rik	UTSW	14	54,828,709 (GRCm39)	missense	possibly damaging	0.62
R2049:4931414P19Rik	UTSW	14	54,822,444 (GRCm39)	nonsense	probably null
R3829:4931414P19Rik	UTSW	14	54,821,966 (GRCm39)	missense	probably damaging	1.00
R3876:4931414P19Rik	UTSW	14	54,828,857 (GRCm39)	nonsense	probably null
R4392:4931414P19Rik	UTSW	14	54,822,435 (GRCm39)	critical splice donor site	probably null
R4680:4931414P19Rik	UTSW	14	54,822,533 (GRCm39)	missense	probably damaging	1.00
R4940:4931414P19Rik	UTSW	14	54,828,782 (GRCm39)	missense	probably benign
R5091:4931414P19Rik	UTSW	14	54,823,168 (GRCm39)	missense	probably damaging	1.00
R5291:4931414P19Rik	UTSW	14	54,823,394 (GRCm39)	missense	probably damaging	1.00
R5594:4931414P19Rik	UTSW	14	54,822,441 (GRCm39)	missense	probably damaging	1.00
R6815:4931414P19Rik	UTSW	14	54,828,610 (GRCm39)	missense	probably damaging	1.00
R7031:4931414P19Rik	UTSW	14	54,833,058 (GRCm39)	missense	probably benign	0.23
R7229:4931414P19Rik	UTSW	14	54,832,809 (GRCm39)	missense	probably benign	0.00
R7616:4931414P19Rik	UTSW	14	54,823,123 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACTCACCGGGTTGAGCAG -3'
(R):5'- TGCCTGTAAGAGCGAGACTAG -3'

Sequencing Primer
(F):5'- AAGGCGCGCATCTCTCTG -3'
(R):5'- AGACTAGCCAGGGCAGCAC -3'

Posted On

2016-02-04