Mutagenetix > Incidental Mutation

Incidental Mutation 'R9421:4930438A08Rik'

712345

Institutional Source

Beutler Lab

Gene Symbol

4930438A08Rik

Ensembl Gene

ENSMUSG00000069873

Gene Name

RIKEN cDNA 4930438A08 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9421 (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 58177451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 53 (N53K)

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: N53K

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: N53K

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,467,069 (GRCm39)	R1070Q	probably damaging	Het
AU018091	T	C	7: 3,208,085 (GRCm39)	I541V	probably benign	Het
B3galt2	A	T	1: 143,522,364 (GRCm39)	R167*	probably null	Het
Bltp3a	A	T	17: 28,095,660 (GRCm39)	D23V	probably damaging	Het
Cabin1	A	G	10: 75,493,658 (GRCm39)	L1660S	probably damaging	Het
Card11	A	T	5: 140,869,462 (GRCm39)	I778N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpne3	A	T	4: 19,536,561 (GRCm39)	M233K	probably benign	Het
Cxcl13	T	A	5: 96,107,789 (GRCm39)	W82R	probably damaging	Het
Dock10	T	A	1: 80,501,509 (GRCm39)	Y1848F	probably damaging	Het
Ednra	G	A	8: 78,391,681 (GRCm39)	T403M	probably damaging	Het
Fbl	A	G	7: 27,875,439 (GRCm39)	I186V	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gorasp2	T	C	2: 70,509,867 (GRCm39)	V176A	probably damaging	Het
Gpr151	T	C	18: 42,712,220 (GRCm39)	I153V	probably benign	Het
Kat6a	C	T	8: 23,398,322 (GRCm39)	L297F	probably damaging	Het
Kcnq4	T	A	4: 120,573,868 (GRCm39)	I198F	possibly damaging	Het
Kdm7a	A	G	6: 39,129,763 (GRCm39)	V471A	possibly damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Lypd6b	A	G	2: 49,832,552 (GRCm39)	E39G	probably benign	Het
Man2b2	T	C	5: 36,978,271 (GRCm39)	T338A	probably benign	Het
Mcm7	T	C	5: 138,165,477 (GRCm39)	T476A	possibly damaging	Het
Or1e30	T	A	11: 73,677,927 (GRCm39)	H54Q	probably benign	Het
Or2y10	G	T	11: 49,455,201 (GRCm39)	G151V	probably benign	Het
Or51h5	T	A	7: 102,577,711 (GRCm39)	I292K	probably damaging	Het
Pdzd2	A	T	15: 12,375,114 (GRCm39)	F1674I		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pilrb1	A	G	5: 137,853,296 (GRCm39)	V169A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rsf1	GC	GCGGCGGCGAC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc49a4	C	A	16: 35,518,372 (GRCm39)	W447L		Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stxbp2	T	C	8: 3,682,264 (GRCm39)	W27R		Het
Tle6	G	A	10: 81,429,868 (GRCm39)	T410M		Het
Ttyh2	C	G	11: 114,587,633 (GRCm39)	Y211*	probably null	Het
Ubap2l	T	A	3: 89,955,108 (GRCm39)	Q20L	possibly damaging	Het
Usp19	T	C	9: 108,376,792 (GRCm39)	Y1122H	probably damaging	Het
Zcchc2	G	T	1: 105,950,987 (GRCm39)	V574L	probably benign	Het
Zfp532	G	A	18: 65,757,308 (GRCm39)	V414I	probably benign	Het
Zfp616	A	C	11: 73,974,331 (GRCm39)	N291T	possibly damaging	Het
Zfp820	A	T	17: 22,038,336 (GRCm39)	C331S	probably benign	Het
Zfp94	G	A	7: 24,002,978 (GRCm39)	R155*	probably null	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
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'- ATCAAGGGTTATGGCCAGTCC -3'
(R):5'- GAACCCTAGAGCTTCATTTGGCC -3'

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

Posted On

2022-05-16