Mutagenetix > Incidental Mutation

Incidental Mutation 'R1337:5730522E02Rik'

156909

Institutional Source

Beutler Lab

Gene Symbol

5730522E02Rik

Ensembl Gene

ENSMUSG00000032985

Gene Name

RIKEN cDNA 5730522E02 gene

Synonyms

MMRRC Submission

039402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R1337 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25566846-26160576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25719033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 37 (S37P)

Ref Sequence

ENSEMBL: ENSMUSP00000137096 (fasta)

Gene Model

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

AlphaFold

Q5SP45

Predicted Effect

unknown
Transcript: ENSMUST00000109511
AA Change: S38P

SMART Domains

Protein: ENSMUSP00000105137
Gene: ENSMUSG00000032985
AA Change: S38P

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: S37P

SMART Domains

Protein: ENSMUSP00000137096
Gene: ENSMUSG00000032985
AA Change: S37P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,333,978 (GRCm39)	I1175V	probably benign	Het
Ager	G	T	17: 34,819,596 (GRCm39)		probably null	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Cacna1c	A	G	6: 118,604,416 (GRCm39)	I1278T	probably damaging	Het
Casp8ap2	T	C	4: 32,645,721 (GRCm39)	V1598A	possibly damaging	Het
Cdk12	T	C	11: 98,136,497 (GRCm39)		probably null	Het
Ces2g	A	T	8: 105,690,597 (GRCm39)	Y126F	possibly damaging	Het
Ehbp1l1	A	T	19: 5,768,258 (GRCm39)	M1015K	probably benign	Het
Engase	A	G	11: 118,373,400 (GRCm39)	T248A	possibly damaging	Het
Gsdma	C	T	11: 98,560,533 (GRCm39)	Q162*	probably null	Het
Hapln3	T	C	7: 78,767,824 (GRCm39)	E190G	probably benign	Het
Hdc	T	C	2: 126,458,196 (GRCm39)	Q42R	probably benign	Het
Larp1b	C	T	3: 40,987,837 (GRCm39)	P20S	probably damaging	Het
Macf1	T	G	4: 123,370,068 (GRCm39)	R1564S	probably benign	Het
Muc5b	A	G	7: 141,412,361 (GRCm39)	Y1769C	unknown	Het
Nup88	T	A	11: 70,835,716 (GRCm39)	Q576L	probably damaging	Het
Or51f1	T	C	7: 102,506,078 (GRCm39)	N137S	probably benign	Het
Or7g21	A	G	9: 19,033,099 (GRCm39)	I280V	probably benign	Het
Prune2	C	T	19: 17,096,971 (GRCm39)	S825L	possibly damaging	Het
Ryr3	C	A	2: 112,610,308 (GRCm39)	M2301I	possibly damaging	Het
Sdk2	A	C	11: 113,723,157 (GRCm39)	V1278G	possibly damaging	Het
Sertad3	T	C	7: 27,175,866 (GRCm39)	L100P	probably damaging	Het
Slco5a1	T	C	1: 13,009,366 (GRCm39)	T370A	probably benign	Het
Srrm1	A	G	4: 135,074,044 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,394,414 (GRCm39)	D121G	probably benign	Het
Ttc7	A	T	17: 87,597,724 (GRCm39)	R99W	probably damaging	Het
Xkr9	C	A	1: 13,771,348 (GRCm39)	S288Y	possibly damaging	Het
Zfp644	A	G	5: 106,785,420 (GRCm39)	S376P	probably damaging	Het

Other mutations in 5730522E02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL03136:5730522E02Rik	APN	11	25,719,122 (GRCm39)	missense	unknown
R0375:5730522E02Rik	UTSW	11	25,719,092 (GRCm39)	missense	unknown
R0828:5730522E02Rik	UTSW	11	25,602,020 (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

2014-02-11