Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:4921530L21Rik'

595191

Institutional Source

Beutler Lab

Gene Symbol

4921530L21Rik

Ensembl Gene

ENSMUSG00000034689

Gene Name

RIKEN cDNA 4921530L21 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95881254-95882780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95882112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 102 (R102G)

Ref Sequence

ENSEMBL: ENSMUSP00000044028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045892] [ENSMUST00000228913]

AlphaFold

Q9CQ47

Predicted Effect

probably benign
Transcript: ENSMUST00000045892
AA Change: R102G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000044028
Gene: ENSMUSG00000034689
AA Change: R102G

Domain	Start	End	E-Value	Type
coiled coil region	36	62	N/A	INTRINSIC
coiled coil region	127	175	N/A	INTRINSIC
coiled coil region	200	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228913
AA Change: R102G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423	S250Y	probably damaging	Het

Other mutations in 4921530L21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0356:4921530L21Rik	UTSW	14	95882365	missense	possibly damaging	0.92
R0633:4921530L21Rik	UTSW	14	95881943	missense	probably damaging	1.00
R1396:4921530L21Rik	UTSW	14	95882551	missense	probably benign	0.01
R5561:4921530L21Rik	UTSW	14	95882371	missense	probably benign	0.26
R6956:4921530L21Rik	UTSW	14	95882433	missense	probably damaging	1.00
R7431:4921530L21Rik	UTSW	14	95881837	missense	probably benign	0.15
R7436:4921530L21Rik	UTSW	14	95882591	missense	probably benign
R7689:4921530L21Rik	UTSW	14	95881816	missense	probably benign
R7724:4921530L21Rik	UTSW	14	95882250	missense	possibly damaging	0.95
R7821:4921530L21Rik	UTSW	14	95882050	missense	possibly damaging	0.91
R8370:4921530L21Rik	UTSW	14	95882494	missense	probably damaging	1.00
Z1177:4921530L21Rik	UTSW	14	95882130	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTGTACCCGAAATCAGAAGAAACTC -3'
(R):5'- TGATCTCCTCATGCAGAGCC -3'

Sequencing Primer
(F):5'- CTCTGTAGAGAAAATAAGGCGTTG -3'
(R):5'- AGAGCCTTAGCCTCATTCTGGAAG -3'

Posted On

2019-11-12