Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02697:Rell1'

303959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rell1

Ensembl Gene

ENSMUSG00000047881

Gene Name

RELT-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02697

Quality Score

Status

Chromosome

Chromosomal Location

64066240-64126240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64084354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 221 (V221I)

Ref Sequence

ENSEMBL: ENSMUSP00000118125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087327] [ENSMUST00000154169]

AlphaFold

Q8K2J7

Predicted Effect

probably benign
Transcript: ENSMUST00000087327

SMART Domains

Protein: ENSMUSP00000084585
Gene: ENSMUSG00000047881

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153089

Predicted Effect

probably damaging
Transcript: ENSMUST00000154169
AA Change: V221I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: V221I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:RELT	59	103	1.2e-26	PFAM
low complexity region	149	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154532

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg2	A	T	4: 47,471,772 (GRCm39)	N345K	probably damaging	Het
Atp13a5	T	A	16: 29,167,350 (GRCm39)	H151L	probably benign	Het
C2cd3	T	C	7: 100,076,376 (GRCm39)		probably benign	Het
Cep57l1	G	T	10: 41,598,950 (GRCm39)	P212T	possibly damaging	Het
Coch	G	A	12: 51,643,821 (GRCm39)	A135T	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cul5	A	G	9: 53,566,631 (GRCm39)	S134P	probably benign	Het
Cyp4f14	T	C	17: 33,124,597 (GRCm39)	T485A	probably damaging	Het
Dennd3	T	C	15: 73,396,085 (GRCm39)	F198S	possibly damaging	Het
Dennd5a	C	A	7: 109,493,988 (GRCm39)	A1239S	probably damaging	Het
Dhx8	T	C	11: 101,645,607 (GRCm39)	I822T	probably damaging	Het
Dnah5	A	T	15: 28,445,289 (GRCm39)	M4142L	probably benign	Het
Dyrk4	T	A	6: 126,875,971 (GRCm39)	N88I	possibly damaging	Het
Emc1	T	C	4: 139,079,955 (GRCm39)	F9L	probably benign	Het
Gga1	A	G	15: 78,769,546 (GRCm39)	E173G	probably damaging	Het
H1f7	T	C	15: 98,155,050 (GRCm39)	K33R	probably benign	Het
Hepacam2	A	T	6: 3,476,036 (GRCm39)	H296Q	possibly damaging	Het
Ipo9	G	T	1: 135,318,314 (GRCm39)	Q699K	probably benign	Het
Jmy	A	T	13: 93,596,209 (GRCm39)	Y473*	probably null	Het
Kdm5b	A	T	1: 134,516,511 (GRCm39)		probably benign	Het
Kit	A	G	5: 75,767,919 (GRCm39)	S101G	probably benign	Het
Krtap4-9	T	A	11: 99,676,574 (GRCm39)	V165E	unknown	Het
Lnpep	T	A	17: 17,773,455 (GRCm39)	M639L	probably benign	Het
Lrp10	C	T	14: 54,707,154 (GRCm39)	P664S	probably damaging	Het
Nrde2	A	T	12: 100,097,466 (GRCm39)	L778H	probably damaging	Het
Oat	A	T	7: 132,171,684 (GRCm39)		probably null	Het
Pfkl	A	T	10: 77,835,752 (GRCm39)	S219T	probably benign	Het
Phtf1	C	T	3: 103,904,879 (GRCm39)	A509V	probably benign	Het
Pigz	T	A	16: 31,763,577 (GRCm39)		probably null	Het
Pltp	T	A	2: 164,682,446 (GRCm39)	Y344F	probably benign	Het
Ppp6r2	A	G	15: 89,140,958 (GRCm39)	Y107C	probably benign	Het
Ptprk	A	G	10: 28,451,614 (GRCm39)	D1034G	possibly damaging	Het
Skint5	A	G	4: 113,336,910 (GRCm39)	F1429S	probably benign	Het
Slc22a28	T	A	19: 8,094,491 (GRCm39)	T177S	probably benign	Het
Stxbp5	G	T	10: 9,638,700 (GRCm39)	S1033*	probably null	Het
Tgs1	A	G	4: 3,585,564 (GRCm39)	D147G	probably benign	Het
Thumpd3	T	A	6: 113,044,256 (GRCm39)	N423K	probably benign	Het
Tns3	G	T	11: 8,442,346 (GRCm39)	D672E	probably benign	Het
Vmn2r61	T	A	7: 41,924,892 (GRCm39)	V482E	possibly damaging	Het
Vmn2r72	G	T	7: 85,387,879 (GRCm39)	Q562K	probably benign	Het
Zan	T	C	5: 137,398,810 (GRCm39)	T4185A	unknown	Het

Other mutations in Rell1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Rell1	APN	5	64,095,157 (GRCm39)	missense	probably damaging	1.00
IGL02374:Rell1	APN	5	64,095,151 (GRCm39)	missense	possibly damaging	0.94
R0648:Rell1	UTSW	5	64,082,088 (GRCm39)	missense	probably benign	0.05
R1471:Rell1	UTSW	5	64,093,428 (GRCm39)	missense	probably damaging	1.00
R3177:Rell1	UTSW	5	64,084,330 (GRCm39)	critical splice donor site	probably null
R3277:Rell1	UTSW	5	64,084,330 (GRCm39)	critical splice donor site	probably null
R4095:Rell1	UTSW	5	64,126,013 (GRCm39)	missense	probably benign
R4921:Rell1	UTSW	5	64,093,376 (GRCm39)	missense	probably damaging	1.00
R4952:Rell1	UTSW	5	64,097,010 (GRCm39)	intron	probably benign
R6294:Rell1	UTSW	5	64,097,048 (GRCm39)	intron	probably benign
R6692:Rell1	UTSW	5	64,095,210 (GRCm39)	missense	probably damaging	1.00
R7297:Rell1	UTSW	5	64,093,418 (GRCm39)	missense	possibly damaging	0.86
R8078:Rell1	UTSW	5	64,097,064 (GRCm39)	intron	probably benign
R8385:Rell1	UTSW	5	64,087,861 (GRCm39)	nonsense	probably null
R9227:Rell1	UTSW	5	64,097,105 (GRCm39)	intron	probably benign
R9230:Rell1	UTSW	5	64,097,105 (GRCm39)	intron	probably benign
X0028:Rell1	UTSW	5	64,093,438 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16