Mutagenetix > Incidental Mutation

Incidental Mutation 'R0477:6030468B19Rik'

41868

Institutional Source

Beutler Lab

Gene Symbol

6030468B19Rik

Ensembl Gene

ENSMUSG00000025573

Gene Name

RIKEN cDNA 6030468B19 gene

Synonyms

MMRRC Submission

038677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R0477 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

117688486-117698127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117693787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 85 (I85F)

Ref Sequence

ENSEMBL: ENSMUSP00000101938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106331]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000106331
AA Change: I85F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101938
Gene: ENSMUSG00000025573
AA Change: I85F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ig_3	31	100	6.1e-5	PFAM
Pfam:Ig_3	120	195	1.2e-6	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

98% (57/58)

MGI Phenotype

PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,956,051 (GRCm39)	I778L	probably benign	Het
Abcc5	T	C	16: 20,187,319 (GRCm39)	N889S	possibly damaging	Het
Abcc5	T	C	16: 20,217,635 (GRCm39)	N359D	probably damaging	Het
Adam23	A	G	1: 63,596,559 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,832,366 (GRCm39)	D913E	probably benign	Het
Ap1b1	G	T	11: 4,981,787 (GRCm39)	C538F	probably benign	Het
Ash1l	T	A	3: 88,890,766 (GRCm39)	S882T	probably benign	Het
C9	A	T	15: 6,487,664 (GRCm39)	E43D	probably benign	Het
Cacna2d1	T	C	5: 16,399,796 (GRCm39)		probably null	Het
Ces2a	A	G	8: 105,464,169 (GRCm39)	E267G	probably damaging	Het
Cfap61	A	G	2: 145,781,836 (GRCm39)	D23G	probably damaging	Het
Col9a3	T	G	2: 180,251,263 (GRCm39)		probably benign	Het
Cstl1	T	C	2: 148,592,908 (GRCm39)	V21A	probably benign	Het
Cth	A	T	3: 157,610,812 (GRCm39)	L340Q	probably damaging	Het
Dnah8	T	A	17: 30,974,054 (GRCm39)	M2813K	probably damaging	Het
Fam107a	A	T	14: 8,301,168 (GRCm38)	Y21N	probably benign	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fer1l4	A	G	2: 155,894,806 (GRCm39)	V21A	probably benign	Het
Foxc2	A	T	8: 121,844,774 (GRCm39)	Y474F	probably damaging	Het
Hnf4g	G	T	3: 3,716,851 (GRCm39)		probably benign	Het
Hnrnpll	T	C	17: 80,369,261 (GRCm39)	D54G	unknown	Het
Hydin	A	G	8: 111,145,130 (GRCm39)	Y827C	probably damaging	Het
Il23r	A	G	6: 67,429,361 (GRCm39)	V327A	probably benign	Het
Itih4	T	A	14: 30,611,631 (GRCm39)	V118D	probably damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,376,268 (GRCm39)	D1546G	possibly damaging	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Map1a	T	C	2: 121,132,582 (GRCm39)	S895P	probably damaging	Het
Mdn1	A	C	4: 32,750,928 (GRCm39)	E4487A	probably benign	Het
Myo15a	T	C	11: 60,411,740 (GRCm39)		probably null	Het
Nlrp4f	C	A	13: 65,338,720 (GRCm39)	R639L	probably benign	Het
Or4f52	A	G	2: 111,062,009 (GRCm39)	F43S	probably benign	Het
Or8h10	T	A	2: 86,808,567 (GRCm39)	D191V	probably damaging	Het
Pcdh9	T	C	14: 94,125,114 (GRCm39)	N229S	probably damaging	Het
Pcnx2	A	G	8: 126,488,306 (GRCm39)	V1746A	probably damaging	Het
Phf12	A	T	11: 77,913,896 (GRCm39)	H446L	possibly damaging	Het
Phlpp2	A	G	8: 110,622,138 (GRCm39)		probably null	Het
Psmb9	A	C	17: 34,401,238 (GRCm39)	V207G	probably damaging	Het
Ptprh	C	A	7: 4,600,997 (GRCm39)	D127Y	possibly damaging	Het
Rabep1	T	G	11: 70,811,733 (GRCm39)	M535R	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,110,515 (GRCm39)	D711G	probably damaging	Het
Slfn4	T	C	11: 83,079,507 (GRCm39)	I6T	probably benign	Het
Sos1	T	A	17: 80,742,363 (GRCm39)	E388V	possibly damaging	Het
Spag5	A	C	11: 78,205,024 (GRCm39)	Q603P	probably damaging	Het
Supv3l1	G	T	10: 62,266,364 (GRCm39)	T604N	probably damaging	Het
Tbx5	A	G	5: 120,021,184 (GRCm39)	S397G	possibly damaging	Het
Tmprss5	A	G	9: 49,026,465 (GRCm39)	D383G	possibly damaging	Het
Trim43b	A	G	9: 88,972,654 (GRCm39)	W167R	probably damaging	Het
Unc80	A	T	1: 66,609,160 (GRCm39)	D1283V	probably damaging	Het
Upf1	A	T	8: 70,786,730 (GRCm39)	V918D	probably benign	Het
Vmn2r100	A	G	17: 19,742,776 (GRCm39)	I383M	probably benign	Het
Zc3h3	G	T	15: 75,648,932 (GRCm39)	S733R	possibly damaging	Het
Zcchc2	C	T	1: 105,958,000 (GRCm39)	P426S	possibly damaging	Het
Zkscan7	A	G	9: 122,719,874 (GRCm39)		probably null	Het

Other mutations in 6030468B19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02168:6030468B19Rik	APN	11	117,689,244 (GRCm39)	splice site	probably benign
IGL03388:6030468B19Rik	APN	11	117,693,596 (GRCm39)	splice site	probably benign
PIT4434001:6030468B19Rik	UTSW	11	117,696,869 (GRCm39)	missense	probably benign	0.01
R3824:6030468B19Rik	UTSW	11	117,693,739 (GRCm39)	missense	probably damaging	0.99
R3825:6030468B19Rik	UTSW	11	117,693,739 (GRCm39)	missense	probably damaging	0.99
R4114:6030468B19Rik	UTSW	11	117,693,793 (GRCm39)	missense	probably damaging	1.00
R4283:6030468B19Rik	UTSW	11	117,697,087 (GRCm39)	missense	probably benign	0.01
R4779:6030468B19Rik	UTSW	11	117,696,834 (GRCm39)	missense	probably benign	0.14
R4916:6030468B19Rik	UTSW	11	117,697,092 (GRCm39)	nonsense	probably null
R5068:6030468B19Rik	UTSW	11	117,693,701 (GRCm39)	missense	possibly damaging	0.85
R5725:6030468B19Rik	UTSW	11	117,696,883 (GRCm39)	missense	probably damaging	0.98
R6139:6030468B19Rik	UTSW	11	117,697,150 (GRCm39)	missense	probably damaging	0.98
R6992:6030468B19Rik	UTSW	11	117,688,594 (GRCm39)	start codon destroyed	probably null
R7157:6030468B19Rik	UTSW	11	117,693,780 (GRCm39)	missense	probably damaging	0.98
R8757:6030468B19Rik	UTSW	11	117,697,112 (GRCm39)	missense	probably benign	0.01
R8759:6030468B19Rik	UTSW	11	117,697,112 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGAAGTTTATCCCCAAAGCCGGAG -3'
(R):5'- AACAGTCCCTTGATTGCCAGCC -3'

Sequencing Primer
(F):5'- CCGGAGGGTGCTTATAACCTG -3'
(R):5'- CTTTGGAGGCAAACAGTCTGC -3'

Posted On

2013-05-23