Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:E130308A19Rik'

32865

Institutional Source

Beutler Lab

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R0044 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

59626116-59757649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59690290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 41 (H41Q)

Ref Sequence

ENSEMBL: ENSMUSP00000065702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052420] [ENSMUST00000070150]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052420
AA Change: H41Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: H41Q

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:DUF3504	520	673	2.2e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070150
AA Change: H41Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
AA Change: H41Q

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
Pfam:DUF3504	532	687	4.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152797

Meta Mutation Damage Score

0.2606

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,219,698 (GRCm39)	R50S	probably damaging	Het
Actn2	G	T	13: 12,290,013 (GRCm39)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,053,641 (GRCm39)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,776,834 (GRCm39)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Atp11b	T	A	3: 35,866,401 (GRCm39)	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,724,599 (GRCm39)		probably benign	Het
Capn1	T	A	19: 6,064,373 (GRCm39)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cfap54	T	C	10: 92,871,295 (GRCm39)	I594V	probably null	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,153,815 (GRCm39)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,168,116 (GRCm39)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
Ebf2	C	T	14: 67,548,417 (GRCm39)		probably benign	Het
Fcho2	A	G	13: 98,892,052 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Gm10036	A	C	18: 15,965,873 (GRCm39)	K8T	probably benign	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,715,170 (GRCm39)	C119S	probably benign	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Kif6	T	C	17: 50,139,284 (GRCm39)		probably benign	Het
Lpin1	A	T	12: 16,618,530 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,357,899 (GRCm39)	I377V	probably benign	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mreg	T	G	1: 72,201,534 (GRCm39)	T153P	probably damaging	Het
Naglu	T	C	11: 100,962,043 (GRCm39)	I172T	probably damaging	Het
Odad4	A	T	11: 100,457,827 (GRCm39)	I477F	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Or4a72	A	G	2: 89,405,974 (GRCm39)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgap1	A	G	1: 54,532,527 (GRCm39)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Pik3r6	A	G	11: 68,435,576 (GRCm39)	T609A	probably benign	Het
Plcb4	T	A	2: 135,813,776 (GRCm39)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,402 (GRCm39)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rexo1	T	A	10: 80,380,212 (GRCm39)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 47,089,456 (GRCm39)		probably null	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Sgtb	A	G	13: 104,265,768 (GRCm39)	T93A	probably benign	Het
Sigirr	G	T	7: 140,672,226 (GRCm39)		probably null	Het
Slc16a7	T	C	10: 125,063,951 (GRCm39)	D462G	probably benign	Het
Slc25a30	C	T	14: 76,007,089 (GRCm39)	A85T	probably benign	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,247,289 (GRCm39)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,112,108 (GRCm39)	M23L	unknown	Het
Synrg	G	A	11: 83,900,007 (GRCm39)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,314,327 (GRCm39)		probably benign	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,202,972 (GRCm39)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,494,003 (GRCm39)	V321G	probably benign	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,269,281 (GRCm39)		probably benign	Het
Vmn2r100	A	T	17: 19,742,441 (GRCm39)	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,695,379 (GRCm39)	L43H	probably damaging	Het
Wnk1	G	T	6: 120,014,110 (GRCm39)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het
Zfp804b	G	T	5: 6,819,655 (GRCm39)	P1136H	probably damaging	Het

Other mutations in E130308A19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:E130308A19Rik	APN	4	59,737,743 (GRCm39)	splice site	probably benign
IGL00672:E130308A19Rik	APN	4	59,719,697 (GRCm39)	missense	probably benign	0.00
IGL00937:E130308A19Rik	APN	4	59,690,846 (GRCm39)	missense	probably benign	0.01
IGL01885:E130308A19Rik	APN	4	59,720,004 (GRCm39)	missense	probably benign	0.20
IGL02638:E130308A19Rik	APN	4	59,719,676 (GRCm39)	nonsense	probably null
H8562:E130308A19Rik	UTSW	4	59,691,033 (GRCm39)	missense	possibly damaging	0.70
R0523:E130308A19Rik	UTSW	4	59,719,716 (GRCm39)	missense	probably damaging	0.98
R0788:E130308A19Rik	UTSW	4	59,719,847 (GRCm39)	missense	possibly damaging	0.76
R1215:E130308A19Rik	UTSW	4	59,690,743 (GRCm39)	missense	probably benign	0.37
R1490:E130308A19Rik	UTSW	4	59,719,746 (GRCm39)	missense	probably damaging	0.99
R2292:E130308A19Rik	UTSW	4	59,690,579 (GRCm39)	missense	probably damaging	0.99
R3907:E130308A19Rik	UTSW	4	59,752,393 (GRCm39)	missense	probably benign	0.14
R4288:E130308A19Rik	UTSW	4	59,690,308 (GRCm39)	missense	probably benign	0.33
R4780:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4781:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4834:E130308A19Rik	UTSW	4	59,690,317 (GRCm39)	nonsense	probably null
R4985:E130308A19Rik	UTSW	4	59,691,017 (GRCm39)	missense	probably benign	0.01
R6123:E130308A19Rik	UTSW	4	59,737,565 (GRCm39)	missense	probably damaging	1.00
R6290:E130308A19Rik	UTSW	4	59,691,332 (GRCm39)	missense	probably benign	0.25
R6315:E130308A19Rik	UTSW	4	59,691,132 (GRCm39)	missense	probably benign
R6643:E130308A19Rik	UTSW	4	59,720,561 (GRCm39)	missense	possibly damaging	0.90
R6763:E130308A19Rik	UTSW	4	59,752,288 (GRCm39)	missense	probably damaging	0.99
R6980:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7036:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7078:E130308A19Rik	UTSW	4	59,737,688 (GRCm39)	missense	probably damaging	1.00
R7098:E130308A19Rik	UTSW	4	59,753,004 (GRCm39)	missense	possibly damaging	0.88
R7171:E130308A19Rik	UTSW	4	59,690,333 (GRCm39)	missense	probably damaging	1.00
R7247:E130308A19Rik	UTSW	4	59,690,502 (GRCm39)	missense	probably damaging	1.00
R7366:E130308A19Rik	UTSW	4	59,752,770 (GRCm39)	missense	probably damaging	0.99
R7916:E130308A19Rik	UTSW	4	59,719,841 (GRCm39)	missense	probably damaging	1.00
R8050:E130308A19Rik	UTSW	4	59,719,767 (GRCm39)	missense	probably damaging	1.00
R8445:E130308A19Rik	UTSW	4	59,720,526 (GRCm39)	missense	probably damaging	0.99
R8795:E130308A19Rik	UTSW	4	59,737,676 (GRCm39)	missense	possibly damaging	0.93
R9088:E130308A19Rik	UTSW	4	59,737,594 (GRCm39)	missense	probably benign	0.16
R9663:E130308A19Rik	UTSW	4	59,719,764 (GRCm39)	missense	possibly damaging	0.87
Z1176:E130308A19Rik	UTSW	4	59,720,313 (GRCm39)	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59,720,223 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGCCTCCTCTCATGATGGGAAG -3'
(R):5'- GAAGGCACCCCAATTATACTGGGAC -3'

Sequencing Primer
(F):5'- AAACTCTTATCCTGTGTGGACAGTC -3'
(R):5'- GGGACTATCAGAATTAAAACTTCGG -3'

Posted On

2013-05-09