Mutagenetix > Incidental Mutation

Incidental Mutation 'R7689:4921530L21Rik'

593297

Institutional Source

Beutler Lab

Gene Symbol

4921530L21Rik

Ensembl Gene

ENSMUSG00000034689

Gene Name

RIKEN cDNA 4921530L21 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95881254-95882780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95881816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

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: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044028
Gene: ENSMUSG00000034689
AA Change: V3A

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: V3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,944,983	F470Y	probably damaging	Het
Adra1a	T	C	14: 66,637,801	L75P	probably damaging	Het
Agap1	T	C	1: 89,834,466	S560P	probably damaging	Het
Arrdc4	T	A	7: 68,741,875	I215L	probably damaging	Het
Atad3a	C	T	4: 155,756,153	A97T	probably damaging	Het
BC067074	A	G	13: 113,379,414	T121A		Het
Bcas3	A	T	11: 85,495,887	T383S	probably benign	Het
C2cd5	G	A	6: 143,050,225	R379*	probably null	Het
C77080	T	C	4: 129,223,773	N411S	probably benign	Het
Cacna1e	G	T	1: 154,398,803	H2138N	probably benign	Het
Card14	A	T	11: 119,325,502	D303V	possibly damaging	Het
Cfhr1	T	C	1: 139,547,740	Y331C	unknown	Het
Chp1	G	A	2: 119,584,665	D183N	probably benign	Het
Cntn2	T	C	1: 132,516,144	T966A	probably benign	Het
Cpne9	T	G	6: 113,290,004	C133G	probably damaging	Het
Cul7	C	T	17: 46,652,821	Q275*	probably null	Het
Cyp11b1	T	C	15: 74,839,048	D221G	probably benign	Het
Dmxl1	T	A	18: 49,846,618	F107I	probably benign	Het
Dnhd1	A	G	7: 105,713,963	I3911V	probably benign	Het
Dpcr1	C	A	17: 35,638,077	S210I	possibly damaging	Het
Eloa	T	C	4: 136,009,284	H551R	probably benign	Het
Fam171b	T	A	2: 83,879,388	V468D	probably benign	Het
Fat2	A	G	11: 55,309,840	W803R	probably damaging	Het
Fbxo43	T	C	15: 36,163,055	D2G	probably benign	Het
Fbxo8	A	G	8: 56,588,085	T179A	probably benign	Het
Gdap1	A	G	1: 17,161,399	T323A	probably damaging	Het
Gm136	T	C	4: 34,743,875	N323S	probably null	Het
Gm4737	T	C	16: 46,154,607	T136A	probably benign	Het
Gm6803	A	G	12: 88,018,489	Y95H	probably damaging	Het
Gm6899	A	T	11: 26,593,819	T129S	unknown	Het
Gnb3	A	T	6: 124,837,220	C166S	possibly damaging	Het
Gpr61	A	G	3: 108,150,650	F232L	probably damaging	Het
Gpx8	T	C	13: 113,043,177	M197V	probably benign	Het
Gse1	G	T	8: 120,568,478	R446L	unknown	Het
Itch	A	G	2: 155,210,002	K614E	probably damaging	Het
Itch	A	T	2: 155,213,067	T764S	probably benign	Het
Itpkb	T	G	1: 180,413,979	M738R	probably damaging	Het
Jph1	T	A	1: 17,003,968	K609*	probably null	Het
Kcns1	G	A	2: 164,168,321	R173C	probably damaging	Het
Larp4b	C	T	13: 9,136,798	S54L	probably damaging	Het
Lonrf1	G	T	8: 36,248,764	S239*	probably null	Het
Lyst	T	G	13: 13,683,223		probably null	Het
Mccc1	T	A	3: 35,960,983	R663*	probably null	Het
Mcm3	A	G	1: 20,806,773	V646A	probably benign	Het
Mdn1	T	C	4: 32,739,912	L3722P	probably damaging	Het
Mmp27	T	G	9: 7,579,001	D392E	probably damaging	Het
Ms4a14	A	G	19: 11,302,542	I884T	probably benign	Het
Muc4	C	T	16: 32,753,011	T963I	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ndrg2	C	T	14: 51,910,355	A102T	possibly damaging	Het
Nos1	A	G	5: 117,897,727	D431G	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Otog	T	C	7: 46,252,056	L393P	probably damaging	Het
Plcl1	A	G	1: 55,697,468	N656S	probably damaging	Het
Pole3	C	A	4: 62,524,823	V27F	probably damaging	Het
Prrt4	T	A	6: 29,177,141	I210F	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rbpms	A	T	8: 33,864,359	S53T	possibly damaging	Het
Rgs7	C	A	1: 175,121,730	V203L	probably benign	Het
Riok1	A	T	13: 38,045,287	D150V	probably damaging	Het
Rrp1b	T	C	17: 32,055,926	L335P	probably benign	Het
Rsph6a	T	G	7: 19,068,037	I592S	possibly damaging	Het
Skor1	C	T	9: 63,145,379	G436D	probably damaging	Het
Slc17a8	T	C	10: 89,597,457	T51A	possibly damaging	Het
Slc22a8	T	C	19: 8,607,884	S266P	probably damaging	Het
Socs2	A	G	10: 95,414,983		probably benign	Het
Tas2r106	A	G	6: 131,678,705	I61T	possibly damaging	Het
Tfap2a	T	C	13: 40,728,575	N77D	probably damaging	Het
Tmem236	T	A	2: 14,192,265	L88Q	probably damaging	Het
Ttc41	A	G	10: 86,759,224	E954G	probably damaging	Het
Vmn1r34	G	T	6: 66,637,010	S248*	probably null	Het
Wipf1	T	C	2: 73,432,445	R483G	probably damaging	Het
Zfhx4	A	G	3: 5,411,886	N3187S	probably benign	Het
Zfp202	C	A	9: 40,210,533	P309T	probably benign	Het
Zfp39	T	C	11: 58,890,643	H431R	probably damaging	Het
Zfp658	T	A	7: 43,574,678	H792Q	probably benign	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
R7720:4921530L21Rik	UTSW	14	95882112	missense	probably benign	0.04
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'- TGGTGGTAGCAATCTAATAGGAAGC -3'
(R):5'- ACTGGTTGTCCATCCGAAAGG -3'

Sequencing Primer
(F):5'- CTACCGGATGACCCATAA -3'
(R):5'- CGCCCCAGAGAAATTTGTTG -3'

Posted On

2019-11-12