Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02374:Rell1'

291038

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 #

IGL02374

Quality Score

Status

Chromosome

Chromosomal Location

64066240-64126240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64095151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 105 (I105K)

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

possibly damaging
Transcript: ENSMUST00000154169
AA Change: I105K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: I105K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,073,003 (GRCm39)	Y35H	probably damaging	Het
Cnksr3	A	G	10: 7,070,335 (GRCm39)	S300P	probably damaging	Het
Col27a1	T	C	4: 63,211,486 (GRCm39)	S1013P	possibly damaging	Het
Cyp39a1	A	G	17: 44,060,872 (GRCm39)		probably benign	Het
Deptor	G	T	15: 55,044,357 (GRCm39)	L174F	probably damaging	Het
Fah	T	C	7: 84,254,909 (GRCm39)	E8G	probably benign	Het
Fastk	C	A	5: 24,649,247 (GRCm39)	A47S	possibly damaging	Het
Foxl2	C	T	9: 98,837,885 (GRCm39)	L58F	probably damaging	Het
Gm57858	T	C	3: 36,074,108 (GRCm39)	Q347R	possibly damaging	Het
Igf2bp2	G	T	16: 21,900,618 (GRCm39)	H106Q	probably benign	Het
Igkv12-47	T	C	6: 69,727,959 (GRCm39)	T71A	probably benign	Het
Ino80d	T	C	1: 63,125,220 (GRCm39)	I81V	possibly damaging	Het
Ints9	G	A	14: 65,276,782 (GRCm39)	E650K	probably benign	Het
Klc2	T	C	19: 5,160,438 (GRCm39)	N408S	possibly damaging	Het
Klhl32	A	T	4: 24,743,856 (GRCm39)		probably null	Het
Ksr1	C	T	11: 78,919,317 (GRCm39)	G504D	probably benign	Het
Lonp2	C	A	8: 87,435,673 (GRCm39)	D636E	probably damaging	Het
Lpin3	G	A	2: 160,737,758 (GRCm39)		probably benign	Het
Mcmdc2	C	T	1: 9,982,207 (GRCm39)	A56V	possibly damaging	Het
Or10al7	A	T	17: 38,366,412 (GRCm39)	V24D	probably damaging	Het
Or4p8	A	T	2: 88,727,803 (GRCm39)	I46N	probably damaging	Het
Pex1	T	C	5: 3,685,481 (GRCm39)	I1163T	probably benign	Het
Ppp1r3a	C	T	6: 14,718,599 (GRCm39)	V772I	probably damaging	Het
Ptbp2	A	T	3: 119,514,342 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,832,789 (GRCm39)	S1003T	probably benign	Het
Slc26a3	T	A	12: 31,520,832 (GRCm39)		probably benign	Het
Stap1	G	A	5: 86,244,410 (GRCm39)	G264R	probably damaging	Het
Tmem176b	T	C	6: 48,811,560 (GRCm39)	N30D	possibly damaging	Het
Tmprss15	A	T	16: 78,832,056 (GRCm39)	Y367N	probably benign	Het
Ttc41	A	G	10: 86,611,815 (GRCm39)	D1061G	probably damaging	Het
Ufl1	A	C	4: 25,259,237 (GRCm39)	D460E	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Wdfy2	T	C	14: 63,171,833 (GRCm39)	S194P	probably benign	Het
Zfp408	A	C	2: 91,476,156 (GRCm39)	C333G	probably damaging	Het
Zfp592	T	C	7: 80,674,731 (GRCm39)	V565A	probably damaging	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
IGL02697:Rell1	APN	5	64,084,354 (GRCm39)	missense	probably damaging	0.96
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