Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03246:4921511C20Rik'

414397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4921511C20Rik

Ensembl Gene

ENSMUSG00000049815

Gene Name

RIKEN cDNA 4921511C20 gene

Synonyms

LOC245598

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03246

Quality Score

Status

Chromosome

Chromosomal Location

126301916-126303521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126303238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 392 (H392Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051530]

AlphaFold

Q8BVT7

Predicted Effect

probably benign
Transcript: ENSMUST00000051530
AA Change: H392Q

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059542
Gene: ENSMUSG00000049815
AA Change: H392Q

Domain	Start	End	E-Value	Type
KH	6	75	2.35e0	SMART
KH	79	177	4.11e-1	SMART
KH	178	244	2.48e-12	SMART
KH	256	326	1.1e-4	SMART
KH	330	398	1.11e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox8	T	A	11: 69,076,841 (GRCm39)	I547L	probably damaging	Het
Capn13	T	C	17: 73,689,855 (GRCm39)	H52R	probably benign	Het
Cfap57	T	A	4: 118,433,842 (GRCm39)	I979L	probably benign	Het
Ctdnep1	T	C	11: 69,875,156 (GRCm39)		probably benign	Het
Ercc5	C	A	1: 44,206,241 (GRCm39)	P385T	probably damaging	Het
Fam98a	C	T	17: 75,845,848 (GRCm39)	M299I	probably damaging	Het
Flcn	A	T	11: 59,684,936 (GRCm39)	I505N	possibly damaging	Het
Fn1	G	A	1: 71,663,455 (GRCm39)	T1011I	possibly damaging	Het
Klhl28	T	C	12: 65,004,060 (GRCm39)	D151G	probably benign	Het
Klk13	T	A	7: 43,370,422 (GRCm39)	N28K	probably damaging	Het
Macc1	T	C	12: 119,410,420 (GRCm39)	V396A	probably benign	Het
Mageb11	C	A	X: 89,936,008 (GRCm39)	H87Q	probably benign	Het
Magi2	T	A	5: 20,563,948 (GRCm39)	I360K	probably damaging	Het
Myh7b	T	C	2: 155,459,792 (GRCm39)	I251T	probably damaging	Het
Naalad2	A	T	9: 18,296,395 (GRCm39)	I85K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,919 (GRCm39)	C311R	probably benign	Het
Pbrm1	A	T	14: 30,832,506 (GRCm39)	M1490L	probably benign	Het
Pclo	C	T	5: 14,727,631 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,507,485 (GRCm39)	K357R	possibly damaging	Het
Pnpla6	C	T	8: 3,581,530 (GRCm39)	T601I	probably benign	Het
Pof1b	A	T	X: 111,557,817 (GRCm39)	N366K	probably benign	Het
Prr9	A	G	3: 92,030,286 (GRCm39)		probably benign	Het
Ptprz1	G	T	6: 22,986,159 (GRCm39)	A320S	probably damaging	Het
Ripor1	A	G	8: 106,342,490 (GRCm39)	Y187C	possibly damaging	Het
Rnf13	A	G	3: 57,676,471 (GRCm39)	E42G	probably damaging	Het
Sdf4	T	C	4: 156,085,154 (GRCm39)	V163A	probably benign	Het
Smc2	C	T	4: 52,440,301 (GRCm39)	Q16*	probably null	Het
Srsf3-ps	T	A	11: 98,516,119 (GRCm39)	R85*	probably null	Het
Tbck	T	A	3: 132,480,331 (GRCm39)	C737S	probably benign	Het
Tra2a	A	T	6: 49,226,019 (GRCm39)	Y140*	probably null	Het
Vcpip1	A	C	1: 9,816,182 (GRCm39)	L734V	probably benign	Het
Vmn1r87	G	A	7: 12,866,288 (GRCm39)		probably benign	Het

Other mutations in 4921511C20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:4921511C20Rik	APN	X	126,303,196 (GRCm39)	missense	probably benign	0.00
IGL02456:4921511C20Rik	APN	X	126,302,584 (GRCm39)	nonsense	probably null
IGL02565:4921511C20Rik	APN	X	126,302,677 (GRCm39)	missense	probably benign	0.16
IGL03222:4921511C20Rik	APN	X	126,303,093 (GRCm39)	missense	probably benign
IGL03299:4921511C20Rik	APN	X	126,303,476 (GRCm39)	utr 3 prime	probably benign
Z1176:4921511C20Rik	UTSW	X	126,302,465 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02