Mutagenetix > Incidental Mutation

Incidental Mutation 'R9524:4930438A08Rik'

719099

Institutional Source

Beutler Lab

Gene Symbol

4930438A08Rik

Ensembl Gene

ENSMUSG00000069873

Gene Name

RIKEN cDNA 4930438A08 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R9524 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58165654-58185116 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 58180594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104462 (fasta)

Gene Model

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

AlphaFold

Q5SPH3

Predicted Effect

probably null
Transcript: ENSMUST00000108834

SMART Domains

Protein: ENSMUSP00000104462
Gene: ENSMUSG00000069873

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2c	G	A	5: 35,438,143 (GRCm39)	R305Q	probably benign	Het
Ahnak	A	G	19: 9,014,617 (GRCm39)	D147G		Het
Arhgap30	T	A	1: 171,225,114 (GRCm39)	S57T	probably damaging	Het
Aspm	T	C	1: 139,408,607 (GRCm39)	I2498T	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Cc2d1a	G	T	8: 84,870,744 (GRCm39)	D101E	probably benign	Het
Cntfr	A	G	4: 41,661,995 (GRCm39)	L249P	probably damaging	Het
D130043K22Rik	T	C	13: 25,071,876 (GRCm39)	I940T	possibly damaging	Het
Dnah12	T	G	14: 26,572,494 (GRCm39)	C2862G	probably null	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,976,309 (GRCm39)	F1247L	possibly damaging	Het
Dpp10	T	C	1: 123,264,611 (GRCm39)	Q737R	probably damaging	Het
Dpp3	A	G	19: 4,959,897 (GRCm39)	V673A	possibly damaging	Het
Eif2a	A	T	3: 58,448,467 (GRCm39)	K100I	possibly damaging	Het
Flnc	C	A	6: 29,461,109 (GRCm39)	N2694K	probably damaging	Het
Fv1	T	A	4: 147,953,768 (GRCm39)	D111E	possibly damaging	Het
Gcnt3	G	A	9: 69,941,569 (GRCm39)	A333V	probably damaging	Het
Gpr151	T	C	18: 42,712,710 (GRCm39)		probably benign	Het
Gxylt2	A	G	6: 100,727,416 (GRCm39)	T177A	probably benign	Het
Hnmt	G	A	2: 23,893,880 (GRCm39)	L205F	possibly damaging	Het
Ikbkb	A	T	8: 23,172,740 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,578,337 (GRCm39)	S391G	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kif3b	A	T	2: 153,159,460 (GRCm39)	K420N	probably benign	Het
Kmt2a	A	G	9: 44,730,294 (GRCm39)	V3341A	unknown	Het
Lce1i	T	C	3: 92,685,081 (GRCm39)	K32E	unknown	Het
Lmf1	A	G	17: 25,881,514 (GRCm39)	Y521C	probably damaging	Het
Mki67	C	T	7: 135,305,913 (GRCm39)	C655Y	probably damaging	Het
Morc3	T	A	16: 93,667,401 (GRCm39)	V593E	probably benign	Het
Muc16	A	G	9: 18,497,314 (GRCm39)	F6613L	probably benign	Het
Naip1	G	A	13: 100,563,101 (GRCm39)	T688I	probably benign	Het
Or2n1d	T	A	17: 38,646,540 (GRCm39)	L164*	probably null	Het
Otop2	T	A	11: 115,214,503 (GRCm39)	C87S	probably benign	Het
Picalm	T	A	7: 89,810,484 (GRCm39)	L97*	probably null	Het
Pik3c2g	T	A	6: 139,606,768 (GRCm39)	W272R	probably damaging	Het
Plekhg4	G	A	8: 106,101,398 (GRCm39)	G20R	unknown	Het
Ppp1r35	G	A	5: 137,777,304 (GRCm39)	A17T	unknown	Het
Ppp2r5e	A	T	12: 75,509,167 (GRCm39)	Y371N	possibly damaging	Het
Rexo1	T	C	10: 80,386,872 (GRCm39)	E62G	probably damaging	Het
Rtl1	T	C	12: 109,556,973 (GRCm39)	E1622G	probably damaging	Het
Ryr1	T	C	7: 28,723,600 (GRCm39)	E4181G	probably damaging	Het
Saxo1	C	A	4: 86,397,132 (GRCm39)	M135I	probably benign	Het
Shank2	C	A	7: 143,964,183 (GRCm39)	P597Q	possibly damaging	Het
Shld2	G	A	14: 33,971,245 (GRCm39)	Q547*	probably null	Het
Slc44a1	G	A	4: 53,542,389 (GRCm39)	V308I	probably benign	Het
Slc6a21	A	G	7: 44,937,785 (GRCm39)	H367R	probably benign	Het
Snx11	G	T	11: 96,660,023 (GRCm39)	T222K	probably benign	Het
Snx4	C	T	16: 33,112,228 (GRCm39)	Q388*	probably null	Het
Sulf1	T	C	1: 12,918,622 (GRCm39)	L831P	probably damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Unc5c	T	C	3: 141,494,683 (GRCm39)	V406A	possibly damaging	Het
Unc5d	A	C	8: 29,365,639 (GRCm39)	N115K	probably damaging	Het
Usp28	C	A	9: 48,947,026 (GRCm39)	T819N	probably damaging	Het
Usp42	T	C	5: 143,702,704 (GRCm39)	D639G	possibly damaging	Het
Vmn2r102	T	A	17: 19,897,564 (GRCm39)	M193K	possibly damaging	Het
Vmn2r12	A	G	5: 109,239,823 (GRCm39)	Y247H	probably damaging	Het
Vps13d	T	C	4: 144,822,814 (GRCm39)	D2989G		Het
Vsig2	A	G	9: 37,455,335 (GRCm39)	E295G	probably benign	Het
Wdfy3	T	A	5: 102,055,333 (GRCm39)	N1579I	probably benign	Het
Zfp521	T	C	18: 13,980,173 (GRCm39)	D80G	possibly damaging	Het
Zfp663	A	C	2: 165,195,607 (GRCm39)	L204R	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
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
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'- TTTTAGGACACAATTCTGGATCCC -3'
(R):5'- TTAAGCAGCACACACCTGTC -3'

Sequencing Primer
(F):5'- GGATCCCAGAACTCATATAAAGTGTC -3'
(R):5'- GAGGACTCTTTGATACAGCAAGCTC -3'

Posted On

2022-07-18