Mutagenetix > Incidental Mutation

Incidental Mutation 'R8214:4930438A08Rik'

636318

Institutional Source

Beutler Lab

Gene Symbol

4930438A08Rik

Ensembl Gene

ENSMUSG00000069873

Gene Name

RIKEN cDNA 4930438A08 gene

Synonyms

MMRRC Submission

067656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58165654-58185116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58177447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 52 (R52Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108834] [ENSMUST00000208022]

AlphaFold

Q5SPH3

Predicted Effect

SMART Domains

Protein: ENSMUSP00000104462
Gene: ENSMUSG00000069873
AA Change: R52Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pyr_redox_2	29	166	2e-8	PFAM
Pfam:AlaDh_PNT_C	48	124	8.8e-8	PFAM
Pfam:FAD_binding_3	61	98	1.9e-7	PFAM
Pfam:HI0933_like	62	103	3.1e-8	PFAM
Pfam:Pyr_redox	63	105	1.8e-7	PFAM
Pfam:FAD_binding_2	63	119	8.7e-9	PFAM
Pfam:DAO	63	212	2.9e-8	PFAM
Pfam:NAD_binding_8	66	133	7.1e-15	PFAM
Pfam:Amino_oxidase	71	270	7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208022
AA Change: R52Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0852

Coding Region Coverage

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

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,254,344 (GRCm39)	R718H	probably damaging	Het
Abcc4	T	C	14: 118,738,253 (GRCm39)	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,135,983 (GRCm39)	T295I	probably damaging	Het
Amph	A	G	13: 19,288,468 (GRCm39)	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,313,944 (GRCm39)	D425G	probably damaging	Het
Atg4b	T	C	1: 93,712,609 (GRCm39)	S316P	probably damaging	Het
Brd4	A	G	17: 32,431,921 (GRCm39)	S649P	probably benign	Het
Bzw1	T	C	1: 58,444,196 (GRCm39)	S411P	probably damaging	Het
Carmil1	T	C	13: 24,228,215 (GRCm39)	E987G	probably damaging	Het
Dnah6	T	C	6: 73,021,711 (GRCm39)	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,292,642 (GRCm39)	W126R	probably damaging	Het
Efcab2	T	C	1: 178,265,015 (GRCm39)	V27A	probably benign	Het
Kctd21	T	C	7: 96,996,548 (GRCm39)	L7P	probably damaging	Het
Kidins220	C	T	12: 25,044,854 (GRCm39)	T216I	probably damaging	Het
Lpl	T	A	8: 69,345,257 (GRCm39)	M87K	probably damaging	Het
Ltn1	A	G	16: 87,177,691 (GRCm39)	V1646A	probably benign	Het
Madcam1	A	G	10: 79,502,592 (GRCm39)	T359A	probably benign	Het
Muc5ac	A	G	7: 141,356,685 (GRCm39)	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,329,729 (GRCm39)	E162G	probably benign	Het
Or10ak11	A	T	4: 118,687,288 (GRCm39)	F117L	probably benign	Het
Or52e2	A	C	7: 102,804,613 (GRCm39)	S114A	probably damaging	Het
Or5p54	T	A	7: 107,554,174 (GRCm39)	S109T	probably benign	Het
Pcdhb5	G	T	18: 37,454,636 (GRCm39)	V339L	probably benign	Het
Plec	A	G	15: 76,076,484 (GRCm39)	W145R	unknown	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Skint5	T	C	4: 113,662,139 (GRCm39)		probably null	Het
Slc12a2	A	G	18: 58,070,791 (GRCm39)	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,723,401 (GRCm39)	I39T	probably benign	Het
Tenm4	T	C	7: 96,544,614 (GRCm39)	V2247A	probably damaging	Het
Tg	C	T	15: 66,645,247 (GRCm39)	R2385C	probably damaging	Het
Tomm70a	G	T	16: 56,942,330 (GRCm39)	A36S	unknown	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tut4	A	G	4: 108,369,347 (GRCm39)	I636V	probably benign	Het
Unc45b	A	G	11: 82,824,714 (GRCm39)	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,300,424 (GRCm39)	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,286,301 (GRCm39)	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,448,775 (GRCm39)	E134A	probably benign	Het
Wdr70	G	A	15: 7,916,851 (GRCm39)	A522V	probably benign	Het
Zfp184	T	A	13: 22,142,995 (GRCm39)	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in 4930438A08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02884:4930438A08Rik	APN	11	58,178,302 (GRCm39)	missense	probably benign	0.01
IGL03088:4930438A08Rik	APN	11	58,184,210 (GRCm39)	missense	unknown
R0715:4930438A08Rik	UTSW	11	58,179,176 (GRCm39)	missense	probably damaging	1.00
R1139:4930438A08Rik	UTSW	11	58,179,112 (GRCm39)	missense	probably damaging	1.00
R1833:4930438A08Rik	UTSW	11	58,179,214 (GRCm39)	nonsense	probably null
R5906:4930438A08Rik	UTSW	11	58,182,260 (GRCm39)	splice site	probably null
R6056:4930438A08Rik	UTSW	11	58,184,464 (GRCm39)	missense	probably damaging	0.96
R6288:4930438A08Rik	UTSW	11	58,184,421 (GRCm39)	missense	probably damaging	1.00
R6981:4930438A08Rik	UTSW	11	58,184,544 (GRCm39)	unclassified	probably benign
R6989:4930438A08Rik	UTSW	11	58,178,228 (GRCm39)	missense	possibly damaging	0.88
R7195:4930438A08Rik	UTSW	11	58,179,242 (GRCm39)	critical splice donor site	probably null
R7344:4930438A08Rik	UTSW	11	58,182,273 (GRCm39)	missense
R7651:4930438A08Rik	UTSW	11	58,184,188 (GRCm39)	missense
R8141:4930438A08Rik	UTSW	11	58,177,411 (GRCm39)	missense
R8187:4930438A08Rik	UTSW	11	58,180,548 (GRCm39)	missense
R8228:4930438A08Rik	UTSW	11	58,182,381 (GRCm39)	missense
R8744:4930438A08Rik	UTSW	11	58,182,260 (GRCm39)	splice site	probably null
R8977:4930438A08Rik	UTSW	11	58,184,710 (GRCm39)	missense	unknown
R9228:4930438A08Rik	UTSW	11	58,178,296 (GRCm39)	missense
R9346:4930438A08Rik	UTSW	11	58,179,095 (GRCm39)	missense
R9421:4930438A08Rik	UTSW	11	58,177,451 (GRCm39)	missense
R9524:4930438A08Rik	UTSW	11	58,180,594 (GRCm39)	critical splice donor site	probably null
Z1186:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1187:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1188:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1189:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1190:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1191:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown
Z1192:4930438A08Rik	UTSW	11	58,184,844 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGATCAAGGGTTATGGCCAGTC -3'
(R):5'- CCCTAGAGCTTCATTTGGCC -3'

Sequencing Primer
(F):5'- GGGTTATGGCCAGTCCTCCTTC -3'
(R):5'- GCTCCAAGGAATGTCCATAGCTTG -3'

Posted On

2020-07-13