Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:5730522E02Rik'

30701

Institutional Source

Beutler Lab

Gene Symbol

5730522E02Rik

Ensembl Gene

ENSMUSG00000032985

Gene Name

RIKEN cDNA 5730522E02 gene

Synonyms

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25566846-26160576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25719092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 17 (Y17F)

Ref Sequence

ENSEMBL: ENSMUSP00000137096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109511] [ENSMUST00000179180]

AlphaFold

Q5SP45

Predicted Effect

unknown
Transcript: ENSMUST00000109511
AA Change: Y18F

SMART Domains

Protein: ENSMUSP00000105137
Gene: ENSMUSG00000032985
AA Change: Y18F

Domain	Start	End	E-Value	Type
low complexity region	90	103	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125773

Predicted Effect

unknown
Transcript: ENSMUST00000179180
AA Change: Y17F

SMART Domains

Protein: ENSMUSP00000137096
Gene: ENSMUSG00000032985
AA Change: Y17F

Domain	Start	End	E-Value	Type
low complexity region	89	102	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,825,476 (GRCm39)	D313G	probably damaging	Het
Abca9	A	T	11: 110,006,273 (GRCm39)	D1277E	probably benign	Het
Adgrl1	G	T	8: 84,661,530 (GRCm39)	A981S	probably damaging	Het
Aff3	T	G	1: 38,244,021 (GRCm39)	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,816,994 (GRCm39)	H78L	probably benign	Het
Bltp1	C	T	3: 37,100,401 (GRCm39)	T4707I	probably damaging	Het
Cacna1g	C	A	11: 94,301,880 (GRCm39)	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,038,709 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,183,161 (GRCm39)	V386A	probably damaging	Het
Cd46	A	G	1: 194,768,472 (GRCm39)	S82P	probably benign	Het
Clic5	A	G	17: 44,581,510 (GRCm39)	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,143,898 (GRCm39)	T529A	probably benign	Het
Col7a1	C	T	9: 108,809,305 (GRCm39)	R2627C	unknown	Het
Cuzd1	G	A	7: 130,913,637 (GRCm39)		probably benign	Het
Cwc27	T	C	13: 104,944,331 (GRCm39)	D50G	possibly damaging	Het
Dhx38	A	G	8: 110,281,813 (GRCm39)	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,565,550 (GRCm39)	E834A	probably damaging	Het
Dsg4	A	G	18: 20,603,936 (GRCm39)	D801G	probably damaging	Het
Dtx1	T	C	5: 120,819,464 (GRCm39)	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,265 (GRCm39)	H116L	probably damaging	Het
Fbxw18	T	C	9: 109,517,907 (GRCm39)	I360V	possibly damaging	Het
Fignl2	G	A	15: 100,951,974 (GRCm39)	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196 (GRCm39)	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,727,200 (GRCm39)	C545*	probably null	Het
Gm3336	A	G	8: 71,171,294 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,290 (GRCm39)	N518S	probably benign	Het
Hbs1l	T	A	10: 21,218,440 (GRCm39)	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,523,064 (GRCm39)	S247R	probably benign	Het
Ifnb1	A	T	4: 88,440,981 (GRCm39)	F11I	probably benign	Het
Marf1	T	C	16: 13,969,184 (GRCm39)		probably benign	Het
Myo1f	T	A	17: 33,820,930 (GRCm39)	V879E	probably benign	Het
Naip1	A	G	13: 100,545,656 (GRCm39)	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,382,586 (GRCm39)	E529G	probably damaging	Het
Npm3	T	C	19: 45,736,668 (GRCm39)	E157G	probably damaging	Het
Or10x4	A	G	1: 174,218,775 (GRCm39)	T47A	probably damaging	Het
Or4a67	T	A	2: 88,597,985 (GRCm39)	T225S	possibly damaging	Het
Or4a68	G	T	2: 89,269,740 (GRCm39)	N294K	probably benign	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,636,286 (GRCm39)	V768A	probably benign	Het
Prrc1	A	G	18: 57,495,564 (GRCm39)	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,313,105 (GRCm39)	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,811,121 (GRCm39)	V181F	probably damaging	Het
Ror2	T	C	13: 53,286,040 (GRCm39)	N58S	probably damaging	Het
Selplg	G	A	5: 113,958,069 (GRCm39)	T79I	probably damaging	Het
Setd1b	G	A	5: 123,295,500 (GRCm39)	G1023S	unknown	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Skint5	A	G	4: 113,562,793 (GRCm39)	V803A	unknown	Het
Slc25a46	T	C	18: 31,716,319 (GRCm39)	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,657,935 (GRCm39)	I101K	possibly damaging	Het
Spag17	C	A	3: 99,934,906 (GRCm39)	T704K	probably benign	Het
Tas2r144	T	A	6: 42,193,058 (GRCm39)	M266K	possibly damaging	Het
Tasor2	A	G	13: 3,646,842 (GRCm39)	V61A	possibly damaging	Het
Tbc1d31	T	A	15: 57,818,746 (GRCm39)	L783H	probably benign	Het
Tbck	C	A	3: 132,456,993 (GRCm39)		probably benign	Het
Vcan	A	G	13: 89,839,394 (GRCm39)	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,367,987 (GRCm39)	N158K	probably damaging	Het
Vmn2r103	T	A	17: 20,013,121 (GRCm39)	Y81N	probably benign	Het
Vmn2r103	A	G	17: 20,013,726 (GRCm39)	T173A	probably benign	Het
Ylpm1	T	G	12: 85,061,754 (GRCm39)	S552A	unknown	Het
Zdhhc17	A	T	10: 110,817,967 (GRCm39)	Y58*	probably null	Het

Other mutations in 5730522E02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03136:5730522E02Rik	APN	11	25,719,122 (GRCm39)	missense	unknown
R0828:5730522E02Rik	UTSW	11	25,602,020 (GRCm39)	missense	unknown
R1337:5730522E02Rik	UTSW	11	25,719,033 (GRCm39)	missense	unknown
R4818:5730522E02Rik	UTSW	11	25,720,472 (GRCm39)	critical splice donor site	probably null
R4942:5730522E02Rik	UTSW	11	25,720,472 (GRCm39)	critical splice donor site	probably null
R5051:5730522E02Rik	UTSW	11	25,718,990 (GRCm39)	missense	unknown
R5357:5730522E02Rik	UTSW	11	25,598,148 (GRCm39)	nonsense	probably null
R7491:5730522E02Rik	UTSW	11	25,719,014 (GRCm39)	missense	unknown
R8983:5730522E02Rik	UTSW	11	25,719,069 (GRCm39)	missense	unknown
X0025:5730522E02Rik	UTSW	11	25,602,017 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCACCATACGAATTCTGTAGGTAGCA -3'
(R):5'- GCTTTGACCAGGAGGAAAGCCA -3'

Sequencing Primer
(F):5'- CGAATTCTGTAGGTAGCAACTAGC -3'
(R):5'- CCAGTCAGGAGTGTCTGC -3'

Posted On

2013-04-24