Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:4933425L06Rik'

172812

Institutional Source

Beutler Lab

Gene Symbol

4933425L06Rik

Ensembl Gene

ENSMUSG00000021718

Gene Name

RIKEN cDNA 4933425L06 gene

Synonyms

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105082122-105121782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105082241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 28 (Q28K)

Ref Sequence

ENSEMBL: ENSMUSP00000022232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022232]

AlphaFold

Q9D3Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000022232
AA Change: Q28K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: Q28K

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Metallophos	40	245	4.8e-12	PFAM
Pfam:5_nucleotid_C	314	472	4.1e-42	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,537,342 (GRCm38)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Als2	T	C	1: 59,218,067 (GRCm38)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,947,157 (GRCm38)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,749,052 (GRCm38)		probably null	Het
Avil	A	G	10: 127,010,625 (GRCm38)		probably null	Het
C2cd3	G	A	7: 100,372,497 (GRCm38)		probably null	Het
Col18a1	G	A	10: 77,059,297 (GRCm38)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,580,160 (GRCm38)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,924 (GRCm38)	E138G	probably damaging	Het
Ctsm	T	C	13: 61,538,435 (GRCm38)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,197,596 (GRCm38)	Q967R	possibly damaging	Het
Dok2	T	C	14: 70,776,953 (GRCm38)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,577,658 (GRCm38)	M1I	probably null	Het
Fkbp8	T	A	8: 70,531,632 (GRCm38)	L210Q	probably damaging	Het
Fpr1	T	A	17: 17,877,001 (GRCm38)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,940,783 (GRCm38)	D243E	probably damaging	Het
Gm281	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Gm5422	A	G	10: 31,249,806 (GRCm38)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm38)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,622,077 (GRCm38)	V79G	probably damaging	Het
Htr6	A	T	4: 139,061,493 (GRCm38)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,391,867 (GRCm38)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,479,482 (GRCm38)		probably benign	Het
Itpr2	A	G	6: 146,180,290 (GRCm38)	F182L	probably damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lama3	A	G	18: 12,407,494 (GRCm38)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,158,934 (GRCm38)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,361,254 (GRCm38)		probably null	Het
Magi3	T	C	3: 104,051,177 (GRCm38)	T531A	probably benign	Het
Mapre2	A	G	18: 23,832,954 (GRCm38)	Y32C	probably damaging	Het
Med1	C	T	11: 98,155,626 (GRCm38)		probably benign	Het
Mslnl	G	A	17: 25,742,934 (GRCm38)	V128M	probably damaging	Het
Olfr1351	A	T	10: 79,017,405 (GRCm38)	I28L	probably benign	Het
Olfr191	G	A	16: 59,086,045 (GRCm38)	T146I	probably benign	Het
Olfr516	A	C	7: 108,845,857 (GRCm38)	L51R	probably damaging	Het
Olfr555	A	G	7: 102,659,201 (GRCm38)	I127V	probably damaging	Het
Pde1b	A	G	15: 103,521,672 (GRCm38)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,522,897 (GRCm38)	D1664G	probably benign	Het
Plod3	C	T	5: 136,988,993 (GRCm38)	R208W	probably damaging	Het
Pstk	G	A	7: 131,384,542 (GRCm38)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,534,485 (GRCm38)	V403A	probably damaging	Het
Rad21	C	A	15: 51,970,040 (GRCm38)	V348F	probably damaging	Het
Sacs	T	A	14: 61,210,732 (GRCm38)	L3409*	probably null	Het
Setd4	T	A	16: 93,593,248 (GRCm38)	K98*	probably null	Het
Skint5	A	G	4: 113,483,926 (GRCm38)	V1385A	probably benign	Het
Stam	C	A	2: 14,146,248 (GRCm38)	S472*	probably null	Het
Stx2	A	G	5: 128,992,225 (GRCm38)	F141L	probably damaging	Het
Tia1	A	G	6: 86,420,348 (GRCm38)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,954,162 (GRCm38)		probably null	Het
Usp34	T	A	11: 23,460,651 (GRCm38)	N2700K	probably damaging	Het

Other mutations in 4933425L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:4933425L06Rik	APN	13	105,118,684 (GRCm38)	missense	probably damaging	1.00
IGL01099:4933425L06Rik	APN	13	105,109,360 (GRCm38)	missense	probably benign	0.00
IGL01540:4933425L06Rik	APN	13	105,082,253 (GRCm38)	missense	possibly damaging	0.47
IGL01968:4933425L06Rik	APN	13	105,119,830 (GRCm38)	missense	probably damaging	0.98
IGL02364:4933425L06Rik	APN	13	105,082,300 (GRCm38)	missense	probably damaging	1.00
IGL02447:4933425L06Rik	APN	13	105,100,459 (GRCm38)	missense	probably damaging	0.99
R0534:4933425L06Rik	UTSW	13	105,082,254 (GRCm38)	nonsense	probably null
R1486:4933425L06Rik	UTSW	13	105,109,783 (GRCm38)	missense	probably benign	0.26
R1543:4933425L06Rik	UTSW	13	105,112,369 (GRCm38)	nonsense	probably null
R1544:4933425L06Rik	UTSW	13	105,109,621 (GRCm38)	missense	probably benign	0.00
R1807:4933425L06Rik	UTSW	13	105,082,236 (GRCm38)	missense	probably benign
R1835:4933425L06Rik	UTSW	13	105,082,194 (GRCm38)	missense	unknown
R2427:4933425L06Rik	UTSW	13	105,109,761 (GRCm38)	missense	probably benign	0.03
R2504:4933425L06Rik	UTSW	13	105,109,742 (GRCm38)	missense	probably benign	0.09
R4353:4933425L06Rik	UTSW	13	105,118,745 (GRCm38)	missense	probably benign	0.14
R4949:4933425L06Rik	UTSW	13	105,109,706 (GRCm38)	missense	probably damaging	1.00
R6242:4933425L06Rik	UTSW	13	105,109,540 (GRCm38)	missense	probably benign	0.00
R6376:4933425L06Rik	UTSW	13	105,119,965 (GRCm38)	missense	possibly damaging	0.95
R6615:4933425L06Rik	UTSW	13	105,112,485 (GRCm38)	missense	probably damaging	1.00
R7610:4933425L06Rik	UTSW	13	105,111,187 (GRCm38)	missense	probably damaging	1.00
R7773:4933425L06Rik	UTSW	13	105,082,285 (GRCm38)	missense	probably damaging	1.00
R7985:4933425L06Rik	UTSW	13	105,119,974 (GRCm38)	missense	probably benign	0.22
R8171:4933425L06Rik	UTSW	13	105,109,783 (GRCm38)	missense	probably benign	0.26
R8429:4933425L06Rik	UTSW	13	105,118,788 (GRCm38)	missense	probably damaging	1.00
R9339:4933425L06Rik	UTSW	13	105,109,606 (GRCm38)	missense	probably benign	0.00
R9497:4933425L06Rik	UTSW	13	105,100,479 (GRCm38)	missense	probably damaging	0.97
X0024:4933425L06Rik	UTSW	13	105,112,511 (GRCm38)	missense	probably damaging	0.99
X0057:4933425L06Rik	UTSW	13	105,082,251 (GRCm38)	missense	probably benign
Z1176:4933425L06Rik	UTSW	13	105,111,144 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTAGGCACAGTCAGGAAAGCAC -3'
(R):5'- ACCGGAGTTACTACCCAAGTCCAG -3'

Sequencing Primer
(F):5'- ATGCTCTGGCTGCCATC -3'
(R):5'- TAACACAGATGACTCCCTGCTTG -3'

Posted On

2014-04-24