Mutagenetix > Incidental Mutation

Incidental Mutation 'R4114:6030468B19Rik'

314558

Institutional Source

Beutler Lab

Gene Symbol

6030468B19Rik

Ensembl Gene

ENSMUSG00000025573

Gene Name

RIKEN cDNA 6030468B19 gene

Synonyms

MMRRC Submission

040990-MU

Accession Numbers

Essential gene?

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

Stock #

R4114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117688486-117698127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117693793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 87 (S87A)

Ref Sequence

ENSEMBL: ENSMUSP00000101938 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000106331
AA Change: S87A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101938
Gene: ENSMUSG00000025573
AA Change: S87A

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

0.1706

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (37/37)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,126,290 (GRCm39)	F1149L	probably benign	Het
Abcf1	A	T	17: 36,270,146 (GRCm39)	D637E	probably benign	Het
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Cdh23	A	G	10: 60,256,819 (GRCm39)		probably null	Het
Cep44	T	C	8: 56,998,457 (GRCm39)	T74A	probably benign	Het
Colq	T	A	14: 31,279,824 (GRCm39)	M1L	probably benign	Het
Cym	A	T	3: 107,127,065 (GRCm39)	L30Q	probably damaging	Het
Dpp6	T	A	5: 27,674,485 (GRCm39)		probably null	Het
Gbe1	G	T	16: 70,280,715 (GRCm39)	G372V	possibly damaging	Het
Hdc	T	A	2: 126,443,738 (GRCm39)	M314L	probably benign	Het
Ino80b	A	G	6: 83,101,121 (GRCm39)	S149P	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Morc3	G	A	16: 93,670,227 (GRCm39)	D801N	probably benign	Het
Mpped1	A	G	15: 83,680,910 (GRCm39)		probably benign	Het
Nek5	G	A	8: 22,601,178 (GRCm39)	T181M	probably damaging	Het
Nlrp4a	T	G	7: 26,149,365 (GRCm39)	F324C	probably damaging	Het
Nop56	T	C	2: 130,118,593 (GRCm39)		probably null	Het
Or6c6c	T	C	10: 129,541,668 (GRCm39)	L307S	probably benign	Het
Or8u9	A	T	2: 86,001,759 (GRCm39)	V134D	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,093 (GRCm39)	N353S	probably benign	Het
Pde8a	T	A	7: 80,932,555 (GRCm39)		probably null	Het
Pramel29	A	T	4: 143,936,173 (GRCm39)	L29H	probably damaging	Het
Ryr2	C	T	13: 11,707,568 (GRCm39)	R2823H	probably damaging	Het
Scart2	T	C	7: 139,877,823 (GRCm39)	V935A	probably damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Slc7a1	T	C	5: 148,278,867 (GRCm39)	T302A	probably damaging	Het
Sult2a2	A	T	7: 13,468,708 (GRCm39)	Q58L	probably benign	Het
Tek	T	C	4: 94,737,920 (GRCm39)	S657P	probably damaging	Het
Trim5	A	G	7: 103,914,947 (GRCm39)	L374P	probably damaging	Het
Tspan18	C	A	2: 93,142,291 (GRCm39)		probably null	Het
Vmn2r37	T	A	7: 9,213,092 (GRCm39)		probably null	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zfp35	A	C	18: 24,135,766 (GRCm39)	I37L	probably benign	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
R0477:6030468B19Rik	UTSW	11	117,693,787 (GRCm39)	missense	probably benign	0.00
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
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'- ACCATTGCCTACAAAGTACTGG -3'
(R):5'- AACAGTCTGCCCTTGTCCAC -3'

Sequencing Primer
(F):5'- GTACTGGAAGTTTATCCCCAAAGC -3'
(R):5'- TGTCCACTCTGCTGGCC -3'

Posted On

2015-05-14