Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:3100002H09Rik'

527014

Institutional Source

Beutler Lab

Gene Symbol

3100002H09Rik

Ensembl Gene

ENSMUSG00000051219

Gene Name

RIKEN cDNA 3100002H09 gene

Synonyms

MMRRC Submission

044787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124609931-124610803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124610642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 39 (A39E)

Ref Sequence

ENSEMBL: ENSMUSP00000053274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053604]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053604
AA Change: A39E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053274
Gene: ENSMUSG00000051219
AA Change: A39E

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184062

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	A	3: 20,315,749 (GRCm38)	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740 (GRCm38)	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788 (GRCm38)	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358 (GRCm38)	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188 (GRCm38)	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836 (GRCm38)	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644 (GRCm38)	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090 (GRCm38)	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121 (GRCm38)	K83E	probably benign	Het
Eif1ad10	A	T	12: 88,249,705 (GRCm38)	D132E	unknown	Het
Epc2	A	G	2: 49,522,669 (GRCm38)	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191 (GRCm38)	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761 (GRCm38)	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668 (GRCm38)	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939 (GRCm38)	S267P	probably benign	Het
Gpat2	G	C	2: 127,431,918 (GRCm38)	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532 (GRCm38)	V100A	probably benign	Het
Invs	A	T	4: 48,402,870 (GRCm38)	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352 (GRCm38)	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286 (GRCm38)	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496 (GRCm38)	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934 (GRCm38)	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323 (GRCm38)	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189 (GRCm38)	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080 (GRCm38)	D133E	probably benign	Het
Or5w13	A	G	2: 87,693,570 (GRCm38)	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099 (GRCm38)		probably benign	Het
Pcmt1	A	G	10: 7,663,149 (GRCm38)	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173 (GRCm38)	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041 (GRCm38)	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802 (GRCm38)	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259 (GRCm38)	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030 (GRCm38)	R260L	probably benign	Het
Six5	A	G	7: 19,096,569 (GRCm38)	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965 (GRCm38)	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063 (GRCm38)	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363 (GRCm38)	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427 (GRCm38)	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624 (GRCm38)	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777 (GRCm38)	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092 (GRCm38)	T600I	probably damaging	Het
Zfp764l1	A	G	7: 127,393,423 (GRCm38)	M5T	probably benign	Het
Zfp873	A	G	10: 82,060,589 (GRCm38)	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908 (GRCm38)	C325Y	probably damaging	Het

Other mutations in 3100002H09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:3100002H09Rik	APN	4	124,610,691 (GRCm38)	missense	probably damaging	0.99
IGL01363:3100002H09Rik	APN	4	124,610,690 (GRCm38)	missense	probably damaging	0.99
IGL02139:3100002H09Rik	APN	4	124,610,576 (GRCm38)	missense	unknown
IGL02641:3100002H09Rik	APN	4	124,610,717 (GRCm38)	missense	unknown
R0104:3100002H09Rik	UTSW	4	124,610,676 (GRCm38)	missense	probably damaging	0.99
R1522:3100002H09Rik	UTSW	4	124,610,694 (GRCm38)	missense	probably damaging	0.99
R5590:3100002H09Rik	UTSW	4	124,610,487 (GRCm38)	missense	unknown
R6136:3100002H09Rik	UTSW	4	124,610,388 (GRCm38)	missense	unknown
R6251:3100002H09Rik	UTSW	4	124,610,652 (GRCm38)	missense	probably damaging	0.99
R8709:3100002H09Rik	UTSW	4	124,610,523 (GRCm38)	missense	unknown
R9478:3100002H09Rik	UTSW	4	124,610,358 (GRCm38)	missense	unknown
Z1176:3100002H09Rik	UTSW	4	124,610,705 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAATACACTTTTGGGGTTAGCCC -3'
(R):5'- CCACATCTGGACACCATGAG -3'

Sequencing Primer
(F):5'- TGCAACTCGGGCCTATGG -3'
(R):5'- CCATGAGTACTTATGGGTAGACTC -3'

Posted On

2018-07-23