Mutagenetix > Incidental Mutation

Incidental Mutation 'R8228:4930438A08Rik'

637063

Institutional Source

Beutler Lab

Gene Symbol

4930438A08Rik

Ensembl Gene

ENSMUSG00000069873

Gene Name

RIKEN cDNA 4930438A08 gene

Synonyms

MMRRC Submission

067661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58165654-58185116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58182381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 252 (I252N)

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: I252N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,324,500 (GRCm39)		probably null	Het
1700008O03Rik	A	G	7: 44,009,729 (GRCm39)	Y158H	probably benign	Het
A930011G23Rik	G	A	5: 99,524,980 (GRCm39)	P60S	probably damaging	Het
Abcf1	A	G	17: 36,271,933 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,260 (GRCm39)	T14A	probably damaging	Het
Alox12b	T	C	11: 69,054,755 (GRCm39)	Y253H	probably damaging	Het
Anapc1	T	A	2: 128,461,837 (GRCm39)	K1756*	probably null	Het
Arid5b	T	A	10: 68,114,536 (GRCm39)	E2V	possibly damaging	Het
Atp13a1	G	A	8: 70,251,569 (GRCm39)	V545M	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCCTCTTC	1: 133,629,459 (GRCm39)		probably benign	Het
Cert1	A	G	13: 96,679,723 (GRCm39)	T18A	probably benign	Het
Cfap119	G	A	7: 127,184,179 (GRCm39)	T239M	probably benign	Het
Col1a1	T	G	11: 94,836,426 (GRCm39)		probably null	Het
Csdc2	C	T	15: 81,833,411 (GRCm39)	T136I	possibly damaging	Het
Dpp9	A	T	17: 56,498,129 (GRCm39)	I609N	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gjb6	T	C	14: 57,361,926 (GRCm39)	R112G	probably benign	Het
Gm19410	A	G	8: 36,252,992 (GRCm39)	K646E	possibly damaging	Het
Grik5	T	C	7: 24,709,933 (GRCm39)	E934G	probably damaging	Het
Grik5	A	T	7: 24,745,735 (GRCm39)	F446Y	possibly damaging	Het
Iffo2	C	G	4: 139,302,483 (GRCm39)	N75K	probably damaging	Het
Kif15	A	G	9: 122,821,041 (GRCm39)	N649D	possibly damaging	Het
Lrit2	G	A	14: 36,791,148 (GRCm39)	A276T	probably damaging	Het
Mcm8	T	C	2: 132,684,714 (GRCm39)		probably null	Het
Mmut	A	G	17: 41,248,219 (GRCm39)	E82G	possibly damaging	Het
Or4n4	A	G	14: 50,518,997 (GRCm39)	S238P	probably damaging	Het
Or5w8	T	A	2: 87,688,284 (GRCm39)	M255K	probably benign	Het
Pcdhga8	A	G	18: 37,861,236 (GRCm39)	Q764R	probably benign	Het
Pcgf2	T	C	11: 97,582,865 (GRCm39)	Y138C	probably benign	Het
Phf20l1	G	T	15: 66,511,789 (GRCm39)	V922F	possibly damaging	Het
Pkd1l2	A	T	8: 117,792,514 (GRCm39)	I426N	probably damaging	Het
Psmd6	T	C	14: 14,116,843 (GRCm38)	N160S	possibly damaging	Het
Robo1	A	G	16: 72,809,768 (GRCm39)	D1172G	probably benign	Het
Sdr9c7	T	C	10: 127,734,544 (GRCm39)	Y11H	possibly damaging	Het
Sec24c	G	T	14: 20,739,975 (GRCm39)	A635S	probably benign	Het
Tex2	T	C	11: 106,457,997 (GRCm39)	I478V	probably benign	Het
Traip	T	C	9: 107,838,265 (GRCm39)	M166T	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Trim46	G	T	3: 89,142,255 (GRCm39)	T744N	probably benign	Het
Tsc1	C	A	2: 28,566,141 (GRCm39)	A520D	probably benign	Het
Usp36	T	C	11: 118,155,716 (GRCm39)	E852G	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Zc3h7a	A	G	16: 10,956,954 (GRCm39)	F885S	probably damaging	Het
Zfp335	G	A	2: 164,746,818 (GRCm39)	R354W	probably damaging	Het
Zfp456	C	A	13: 67,514,533 (GRCm39)	C391F	probably 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
R8214:4930438A08Rik	UTSW	11	58,177,447 (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'- AGCGCTCACATGTTGTCTC -3'
(R):5'- ATTTCTTGGTGCCTGGATCC -3'

Sequencing Primer
(F):5'- GCTCACATGTTGTCTCCCTGTAC -3'
(R):5'- AATTCAGAGAGATCTACCTGCCTCTG -3'

Posted On

2020-07-13