Mutagenetix > Incidental Mutation

Incidental Mutation 'R9715:Ik'

730419

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024474

Gene Name

IK cytokine

Synonyms

MuRED

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9715 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36877709-36890692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36886566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 346 (R346H)

Ref Sequence

ENSEMBL: ENSMUSP00000007042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007042]

AlphaFold

Q9Z1M8

Predicted Effect

probably benign
Transcript: ENSMUST00000007042
AA Change: R346H

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474
AA Change: R346H

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:RED_N	76	302	1.6e-105	PFAM
low complexity region	334	380	N/A	INTRINSIC
Pfam:RED_C	445	554	1.1e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224284

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,359 (GRCm39)	V1323I	probably damaging	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,481,941 (GRCm39)	D99G	probably benign	Het
Ccdc17	T	A	4: 116,455,090 (GRCm39)	L215Q	probably damaging	Het
Cep350	A	G	1: 155,751,107 (GRCm39)	Y2022H	probably benign	Het
Cimip2c	G	C	5: 30,641,261 (GRCm39)	D170H	possibly damaging	Het
Cnbd2	T	C	2: 156,183,547 (GRCm39)	S338P	probably benign	Het
D5Ertd579e	A	T	5: 36,787,029 (GRCm39)	V113D	possibly damaging	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Ephb1	T	C	9: 101,848,384 (GRCm39)	N679S	probably damaging	Het
Faxc	T	C	4: 21,993,307 (GRCm39)	I317T	probably damaging	Het
Fgd5	T	C	6: 91,965,290 (GRCm39)	Y508H	possibly damaging	Het
Foxd2	G	T	4: 114,765,195 (GRCm39)	A275E	unknown	Het
Fut9	C	A	4: 25,620,679 (GRCm39)	S45I	probably benign	Het
Gm5148	T	C	3: 37,768,801 (GRCm39)	N140D	unknown	Het
Gpr37l1	C	T	1: 135,089,391 (GRCm39)	G225S	probably damaging	Het
Gramd1c	G	A	16: 43,825,840 (GRCm39)	S107L	possibly damaging	Het
Gtpbp2	A	G	17: 46,478,301 (GRCm39)	D483G		Het
Ino80e	A	T	7: 126,461,098 (GRCm39)	Y50N	unknown	Het
Irag1	A	T	7: 110,470,640 (GRCm39)	S898T	possibly damaging	Het
Kbtbd2	A	G	6: 56,756,566 (GRCm39)	V390A	probably benign	Het
Limch1	A	C	5: 67,156,360 (GRCm39)	N276H	probably damaging	Het
Negr1	T	G	3: 156,774,936 (GRCm39)		probably null	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp14	G	A	7: 106,781,626 (GRCm39)	M274I	probably benign	Het
Nr1d1	T	C	11: 98,662,943 (GRCm39)	I17V	probably benign	Het
Or10ad1b	T	A	15: 98,124,902 (GRCm39)	D210V	probably damaging	Het
Or4k35	T	C	2: 111,100,623 (GRCm39)	I30V	probably benign	Het
Or5p64	A	G	7: 107,855,198 (GRCm39)	I49T	probably benign	Het
Ppip5k2	A	G	1: 97,677,312 (GRCm39)	V334A		Het
Ppp1r9a	G	A	6: 5,045,936 (GRCm39)	V467I	probably damaging	Het
Ppp2r2c	A	G	5: 37,097,488 (GRCm39)	I225V	possibly damaging	Het
Ptpro	A	T	6: 137,345,108 (GRCm39)	N38I	probably damaging	Het
Scn2a	C	A	2: 65,579,149 (GRCm39)	Q1495K	possibly damaging	Het
Scn7a	A	T	2: 66,519,902 (GRCm39)	Y1001N	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bgrl2	T	A	9: 83,430,513 (GRCm39)	M1K	probably null	Het
Slc25a12	C	T	2: 71,109,899 (GRCm39)	V516M	probably benign	Het
Sptbn4	A	G	7: 27,091,000 (GRCm39)	L1402P	probably damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Svop	A	G	5: 114,198,169 (GRCm39)	S135P	probably benign	Het
Sycp2	G	T	2: 178,035,957 (GRCm39)	D243E	probably damaging	Het
Tcerg1	T	C	18: 42,706,413 (GRCm39)	F1030S	probably damaging	Het
Tecta	T	A	9: 42,286,596 (GRCm39)	N687Y	probably damaging	Het
Tep1	A	T	14: 51,081,759 (GRCm39)	H1230Q		Het
Tfap2b	T	C	1: 19,284,373 (GRCm39)	S94P	probably damaging	Het
Tll2	C	A	19: 41,092,238 (GRCm39)	G533V	probably damaging	Het
Vmn2r55	A	G	7: 12,402,061 (GRCm39)	V409A	probably damaging	Het
Wdr41	A	G	13: 95,145,373 (GRCm39)	E194G	probably damaging	Het
Zan	G	T	5: 137,398,817 (GRCm39)	S4182R	unknown	Het
Zfpl1	T	C	19: 6,134,074 (GRCm39)	Y40C	probably damaging	Het
Znrf3	C	A	11: 5,232,454 (GRCm39)	R257L	possibly damaging	Het

Other mutations in Ik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Ik	APN	18	36,889,921 (GRCm39)	nonsense	probably null
IGL01409:Ik	APN	18	36,889,974 (GRCm39)	missense	probably damaging	1.00
IGL01636:Ik	APN	18	36,884,254 (GRCm39)	missense	possibly damaging	0.63
IGL02282:Ik	APN	18	36,878,697 (GRCm39)	missense	probably damaging	0.99
IGL02422:Ik	APN	18	36,886,313 (GRCm39)	critical splice acceptor site	probably null
IGL03263:Ik	APN	18	36,881,699 (GRCm39)	missense	probably damaging	0.98
IGL03356:Ik	APN	18	36,889,657 (GRCm39)	missense	probably damaging	1.00
R0675:Ik	UTSW	18	36,880,386 (GRCm39)	unclassified	probably benign
R1778:Ik	UTSW	18	36,889,871 (GRCm39)	unclassified	probably benign
R4060:Ik	UTSW	18	36,881,943 (GRCm39)	missense	probably damaging	0.96
R4606:Ik	UTSW	18	36,886,608 (GRCm39)	missense	possibly damaging	0.68
R4684:Ik	UTSW	18	36,885,467 (GRCm39)	missense	probably damaging	1.00
R4819:Ik	UTSW	18	36,886,310 (GRCm39)	splice site	probably null
R4978:Ik	UTSW	18	36,880,468 (GRCm39)	missense	possibly damaging	0.54
R5256:Ik	UTSW	18	36,881,926 (GRCm39)	missense	probably benign	0.00
R5751:Ik	UTSW	18	36,886,566 (GRCm39)	missense	probably benign	0.07
R5966:Ik	UTSW	18	36,888,531 (GRCm39)	missense	possibly damaging	0.50
R6378:Ik	UTSW	18	36,890,341 (GRCm39)	missense	probably damaging	1.00
R6952:Ik	UTSW	18	36,886,613 (GRCm39)	missense	probably damaging	1.00
R7068:Ik	UTSW	18	36,888,518 (GRCm39)	missense	possibly damaging	0.57
R7143:Ik	UTSW	18	36,884,230 (GRCm39)	missense	probably damaging	1.00
R7242:Ik	UTSW	18	36,881,275 (GRCm39)	missense	probably null	1.00
R9251:Ik	UTSW	18	36,880,495 (GRCm39)	critical splice donor site	probably null
R9483:Ik	UTSW	18	36,886,635 (GRCm39)	missense	probably benign	0.20
R9565:Ik	UTSW	18	36,886,959 (GRCm39)	missense	probably benign	0.00
R9694:Ik	UTSW	18	36,877,840 (GRCm39)	missense	probably benign
Z1088:Ik	UTSW	18	36,877,835 (GRCm39)	nonsense	probably null
Z1176:Ik	UTSW	18	36,886,568 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TCCTGAGGCTGACATGAAGTATG -3'
(R):5'- TTTCACAGCCTGGTGTCAG -3'

Sequencing Primer
(F):5'- GAAGTATGTATTCCAGCCCCATG -3'
(R):5'- TGGTGTCAGAGCCCACATCTC -3'

Posted On

2022-10-06