Mutagenetix > Incidental Mutation

Incidental Mutation 'R5848:4930553M12Rik'

453708

Institutional Source

Beutler Lab

Gene Symbol

4930553M12Rik

Ensembl Gene

ENSMUSG00000054351

Gene Name

RIKEN cDNA 4930553M12 gene

Synonyms

MMRRC Submission

043225-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88785470-88786617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88786596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 7 (I7M)

Ref Sequence

ENSEMBL: ENSMUSP00000052657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057837]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000057837
AA Change: I7M

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,344,428 (GRCm39)	M68K	probably benign	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Cdcp1	T	A	9: 123,012,770 (GRCm39)	H259L	possibly damaging	Het
Ckap4	T	C	10: 84,369,354 (GRCm39)	Q126R	probably benign	Het
Clec18a	C	T	8: 111,802,093 (GRCm39)	V299I	probably benign	Het
D7Ertd443e	A	G	7: 133,951,451 (GRCm39)	I27T	possibly damaging	Het
Dlg2	T	G	7: 92,093,735 (GRCm39)	D726E	probably benign	Het
Dnah8	T	C	17: 30,947,165 (GRCm39)	I1856T	possibly damaging	Het
Espl1	G	A	15: 102,231,011 (GRCm39)	V1837I	probably benign	Het
Fanca	G	T	8: 124,021,792 (GRCm39)		probably benign	Het
Fer1l5	A	G	1: 36,428,016 (GRCm39)	T437A	probably benign	Het
Gm10644	C	A	8: 84,660,668 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,340 (GRCm39)	S635G	probably benign	Het
Map3k12	A	G	15: 102,412,670 (GRCm39)	V234A	possibly damaging	Het
Mks1	A	G	11: 87,747,696 (GRCm39)	N193S	probably benign	Het
Mmp11	T	C	10: 75,763,223 (GRCm39)	E151G	probably damaging	Het
Napg	A	G	18: 63,127,440 (GRCm39)	R265G	possibly damaging	Het
Odad2	T	A	18: 7,268,507 (GRCm39)		probably null	Het
Or5e1	T	A	7: 108,354,781 (GRCm39)	C239*	probably null	Het
Or6e1	A	G	14: 54,520,022 (GRCm39)	F110S	possibly damaging	Het
P3r3urf	T	C	4: 116,030,812 (GRCm39)	I72T	probably damaging	Het
Pcdha7	G	T	18: 37,108,136 (GRCm39)	C387F	probably damaging	Het
Pcdhb3	G	T	18: 37,434,700 (GRCm39)	R222L	probably benign	Het
Phf2	A	G	13: 48,973,546 (GRCm39)	M373T	unknown	Het
Plekha7	T	C	7: 115,739,634 (GRCm39)	T636A	probably damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf6	G	A	5: 146,147,959 (GRCm39)	P353L	probably benign	Het
Sel1l3	A	C	5: 53,342,150 (GRCm39)	L357V	possibly damaging	Het
Sh3rf3	T	A	10: 58,819,975 (GRCm39)	M262K	possibly damaging	Het
Sorcs3	A	T	19: 48,776,950 (GRCm39)	H994L	probably damaging	Het
Thsd7a	A	T	6: 12,503,922 (GRCm39)	C411S	probably damaging	Het
Ttn	T	C	2: 76,593,682 (GRCm39)	K20653E	probably damaging	Het
Ttn	A	C	2: 76,708,908 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,611,264 (GRCm39)	W15677R	probably damaging	Het
Ubr2	T	C	17: 47,267,581 (GRCm39)	M1049V	possibly damaging	Het

Other mutations in 4930553M12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00163:4930553M12Rik	APN	4	88,786,310 (GRCm39)	nonsense	probably null
R0194:4930553M12Rik	UTSW	4	88,786,480 (GRCm39)	missense	unknown
R2143:4930553M12Rik	UTSW	4	88,786,412 (GRCm39)	missense	unknown
R2143:4930553M12Rik	UTSW	4	88,786,411 (GRCm39)	missense	unknown
R2144:4930553M12Rik	UTSW	4	88,786,412 (GRCm39)	missense	unknown
R2144:4930553M12Rik	UTSW	4	88,786,411 (GRCm39)	missense	unknown
R5135:4930553M12Rik	UTSW	4	88,786,508 (GRCm39)	missense	unknown
R5822:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5849:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5850:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5854:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R5856:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R6128:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R6130:4930553M12Rik	UTSW	4	88,786,596 (GRCm39)	missense	unknown
R7054:4930553M12Rik	UTSW	4	88,786,486 (GRCm39)	missense	unknown
R7292:4930553M12Rik	UTSW	4	88,786,568 (GRCm39)	missense	unknown
R7754:4930553M12Rik	UTSW	4	88,786,496 (GRCm39)	missense	unknown
R7844:4930553M12Rik	UTSW	4	88,786,423 (GRCm39)	missense	unknown
R7980:4930553M12Rik	UTSW	4	88,786,315 (GRCm39)	missense	unknown
R9417:4930553M12Rik	UTSW	4	88,786,202 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGCTTTCTCGCCCAAAGAATC -3'
(R):5'- AAAGAATATTCTGGCACTGGGTC -3'

Sequencing Primer
(F):5'- AAAGAATCCGCTTATTCCCCTG -3'
(R):5'- CCTTTTGGAGCCAGCCAAC -3'

Posted On

2017-02-10