Mutagenetix > Incidental Mutations

Incidental Mutation 'R7618:4930432K21Rik'

589004

Institutional Source

Beutler Lab

Gene Symbol

4930432K21Rik

Ensembl Gene

ENSMUSG00000008129

Gene Name

RIKEN cDNA 4930432K21 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84148025-84172590 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84166870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 222 (Q222R)

Ref Sequence

ENSEMBL: ENSMUSP00000113651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000143833]

AlphaFold

Q6DIA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093375
AA Change: Q187R

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: Q187R

Domain	Start	End	E-Value	Type
low complexity region	226	241	N/A	INTRINSIC
low complexity region	291	306	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118856
AA Change: Q222R

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: Q222R

Domain	Start	End	E-Value	Type
Pfam:DUF4671	1	193	2.1e-62	PFAM
Pfam:DUF4671	181	600	7.3e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143833

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,584,550	C602W	possibly damaging	Het
Akap11	T	C	14: 78,498,860	D1830G		Het
Alms1	A	G	6: 85,678,417	N2846S	probably benign	Het
Amt	A	C	9: 108,299,878	E228D	probably damaging	Het
Ankar	T	C	1: 72,675,766	M618V	probably benign	Het
Ankrd60	T	C	2: 173,571,041		probably null	Het
Aoc1	A	G	6: 48,906,386	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,737,666	I108F	probably benign	Het
Arfgef3	G	T	10: 18,646,281	Q666K	probably damaging	Het
Bin2	T	A	15: 100,645,013	R430W	probably damaging	Het
Cdh18	T	A	15: 23,366,970	V254D	probably damaging	Het
Cfap46	A	T	7: 139,603,239	S159R		Het
Clnk	A	T	5: 38,736,355	S220T	probably benign	Het
Col19a1	G	T	1: 24,322,084	H608Q	probably benign	Het
Cplx1	C	T	5: 108,525,529	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,978,378	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,032,891	E79G	probably benign	Het
Eif4g3	T	C	4: 138,171,118	S902P	probably damaging	Het
Emilin3	T	A	2: 160,909,279	E183D	probably benign	Het
Fam124b	G	A	1: 80,213,837		probably benign	Het
Gm9195	T	C	14: 72,452,835	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,736,199	I98F	probably damaging	Het
Il31ra	G	A	13: 112,551,980	P21L	possibly damaging	Het
Kat6a	A	G	8: 22,862,562	I121V	possibly damaging	Het
Kif11	T	C	19: 37,411,560	W832R	probably benign	Het
Klhl9	T	C	4: 88,720,535	T490A	possibly damaging	Het
Lars	G	T	18: 42,244,891	A153E	probably benign	Het
Muc5b	A	T	7: 141,867,597	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,475	C294*	probably null	Het
Nceh1	T	A	3: 27,183,217		probably null	Het
Ncf1	T	A	5: 134,227,267	T93S	probably benign	Het
Nfatc2	G	A	2: 168,534,999	R545C	probably damaging	Het
Nos1	C	T	5: 117,903,944	P545S	probably benign	Het
Ogfod3	C	A	11: 121,202,978	V69F	probably damaging	Het
Olfr1197	A	T	2: 88,728,836	Y254*	probably null	Het
Phf12	A	G	11: 78,026,134	N272S	unknown	Het
Prkcz	T	A	4: 155,262,482	I581F	probably damaging	Het
Rasgrf2	T	C	13: 91,987,966	H8R		Het
Rb1cc1	T	A	1: 6,265,558		probably null	Het
Rcor2	T	A	19: 7,271,046	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,503,332		probably benign	Het
Serinc3	A	T	2: 163,630,969	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,898,770	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,496,971		probably null	Het
Syne2	T	G	12: 75,945,334	H1993Q	probably benign	Het
Tap1	A	G	17: 34,188,238	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,088,250		probably null	Het
Ube2ql1	G	T	13: 69,738,947	Q132K	probably benign	Het
Unc13d	T	C	11: 116,066,721	N803D	probably damaging	Het
Vcan	G	A	13: 89,692,223	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,985,739	Y2630C		Het
Wdr93	A	G	7: 79,785,726	T668A	probably benign	Het

Other mutations in 4930432K21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:4930432K21Rik	APN	8	84166771	missense	probably damaging	0.99
IGL00964:4930432K21Rik	APN	8	84166714	missense	probably benign	0.07
IGL01826:4930432K21Rik	APN	8	84166672	missense	probably benign	0.03
IGL02445:4930432K21Rik	APN	8	84159508	missense	probably benign	0.13
R0113:4930432K21Rik	UTSW	8	84167242	missense	probably damaging	1.00
R1479:4930432K21Rik	UTSW	8	84162397	missense	possibly damaging	0.59
R1590:4930432K21Rik	UTSW	8	84167086	missense	probably benign	0.28
R3011:4930432K21Rik	UTSW	8	84166910	nonsense	probably null
R4357:4930432K21Rik	UTSW	8	84159592	missense	probably benign	0.25
R5642:4930432K21Rik	UTSW	8	84167485	missense	probably damaging	0.99
R5664:4930432K21Rik	UTSW	8	84166659	missense	probably benign	0.25
R5722:4930432K21Rik	UTSW	8	84171844	missense	probably damaging	0.96
R7031:4930432K21Rik	UTSW	8	84166684	missense	possibly damaging	0.83
R7224:4930432K21Rik	UTSW	8	84172213	missense	probably benign
R7303:4930432K21Rik	UTSW	8	84161233	missense	probably benign	0.38
R7459:4930432K21Rik	UTSW	8	84167352	missense	probably benign	0.03
R8414:4930432K21Rik	UTSW	8	84167323	missense	probably damaging	0.98
R9252:4930432K21Rik	UTSW	8	84172249	missense	possibly damaging	0.92
RF040:4930432K21Rik	UTSW	8	84167575	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGCCAGATGGAACCCTTTC -3'
(R):5'- CACAGAGGGATCTAAGCTCAC -3'

Sequencing Primer
(F):5'- GCCAGATGGAACCCTTTCAAAGG -3'
(R):5'- CAGAGGGATCTAAGCTCACTTCTG -3'

Posted On

2019-10-24