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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) 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	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably damaging	Het

Other mutations in 3100002H09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:3100002H09Rik	APN	4	124610691	missense	probably damaging	0.99
IGL01363:3100002H09Rik	APN	4	124610690	missense	probably damaging	0.99
IGL02139:3100002H09Rik	APN	4	124610576	missense	unknown
IGL02641:3100002H09Rik	APN	4	124610717	missense	unknown
R0104:3100002H09Rik	UTSW	4	124610676	missense	probably damaging	0.99
R1522:3100002H09Rik	UTSW	4	124610694	missense	probably damaging	0.99
R5590:3100002H09Rik	UTSW	4	124610487	missense	unknown
R6136:3100002H09Rik	UTSW	4	124610388	missense	unknown
R6251:3100002H09Rik	UTSW	4	124610652	missense	probably damaging	0.99
R8709:3100002H09Rik	UTSW	4	124610523	missense	unknown
R9478:3100002H09Rik	UTSW	4	124610358	missense	unknown
Z1176:3100002H09Rik	UTSW	4	124610705	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