Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03170:Relch'

411796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Relch

Ensembl Gene

ENSMUSG00000026319

Gene Name

RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing

Synonyms

2310035C23Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

IGL03170

Quality Score

Status

Chromosome

Chromosomal Location

105591570-105682856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105663680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 943 (T943I)

Ref Sequence

ENSEMBL: ENSMUSP00000141162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039173] [ENSMUST00000086721] [ENSMUST00000186807] [ENSMUST00000190501]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039173
AA Change: T967I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: T967I

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
LisH	231	263	1.25e-3	SMART
coiled coil region	334	372	N/A	INTRINSIC
SCOP:d1b3ua_	532	1069	4e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086721
AA Change: T967I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: T967I

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
coiled coil region	197	232	N/A	INTRINSIC
LisH	255	287	1.25e-3	SMART
coiled coil region	358	396	N/A	INTRINSIC
SCOP:d1b3ua_	556	1093	5e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185750

Predicted Effect

probably benign
Transcript: ENSMUST00000186807

SMART Domains

Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
coiled coil region	197	232	N/A	INTRINSIC
LisH	255	287	3.9e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190459

Predicted Effect

probably damaging
Transcript: ENSMUST00000190501
AA Change: T943I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: T943I

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
LisH	231	263	1.25e-3	SMART
coiled coil region	334	372	N/A	INTRINSIC
SCOP:d1b3ua_	532	1069	4e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191293

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,774,861 (GRCm39)	D1023G	probably damaging	Het
Ccn1	C	A	3: 145,355,514 (GRCm39)	A12S	probably benign	Het
Cyp2c54	A	G	19: 40,060,809 (GRCm39)		probably null	Het
Cyp4f37	C	T	17: 32,844,093 (GRCm39)		probably benign	Het
Entpd2	T	C	2: 25,289,493 (GRCm39)	F325S	probably damaging	Het
Flnb	T	C	14: 7,818,261 (GRCm38)	I37T	possibly damaging	Het
Gtpbp10	A	G	5: 5,605,355 (GRCm39)	V116A	probably benign	Het
H2-T9	C	T	17: 36,439,605 (GRCm39)	G125E	probably damaging	Het
Lrp1b	T	A	2: 40,587,456 (GRCm39)	N164I	unknown	Het
Nle1	T	A	11: 82,795,096 (GRCm39)	T312S	probably benign	Het
Or10ab5	T	C	7: 108,245,307 (GRCm39)	I159V	probably benign	Het
Pim1	T	A	17: 29,710,152 (GRCm39)	L12Q	possibly damaging	Het
Plb1	G	T	5: 32,442,246 (GRCm39)	C246F	probably damaging	Het
Ppp4r4	T	C	12: 103,557,033 (GRCm39)		probably benign	Het
Prl6a1	T	A	13: 27,499,406 (GRCm39)	V63D	possibly damaging	Het
Ptprz1	G	A	6: 22,959,766 (GRCm39)	A88T	probably benign	Het
Ranbp3l	A	T	15: 9,029,611 (GRCm39)	E31V	probably damaging	Het
Rgs9	G	A	11: 109,150,681 (GRCm39)	T209I	probably benign	Het
Smg8	A	G	11: 86,977,434 (GRCm39)	V49A	probably damaging	Het
Smim6	A	T	11: 115,804,314 (GRCm39)	T34S	possibly damaging	Het
Snw1	T	G	12: 87,519,022 (GRCm39)	T4P	probably benign	Het
Sod2	C	A	17: 13,227,257 (GRCm39)	H70Q	probably benign	Het
Tro	A	G	X: 149,438,556 (GRCm39)	S34P	probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Uggt1	A	C	1: 36,202,342 (GRCm39)	V1085G	probably damaging	Het
Vmn1r21	A	G	6: 57,820,847 (GRCm39)	V199A	probably damaging	Het
Xkr9	T	C	1: 13,771,036 (GRCm39)	I184T	possibly damaging	Het
Zfp369	T	C	13: 65,442,224 (GRCm39)	S273P	probably damaging	Het
Zpld2	C	T	4: 133,920,345 (GRCm39)	V607I	possibly damaging	Het

Other mutations in Relch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Relch	APN	1	105,624,324 (GRCm39)	splice site	probably benign
IGL02393:Relch	APN	1	105,615,093 (GRCm39)	missense	probably damaging	1.00
IGL02655:Relch	APN	1	105,605,971 (GRCm39)	missense	probably damaging	1.00
IGL02992:Relch	APN	1	105,647,189 (GRCm39)	missense	possibly damaging	0.89
detention	UTSW	1	105,678,121 (GRCm39)	missense	possibly damaging	0.54
hiatus	UTSW	1	105,649,030 (GRCm39)	missense	probably benign	0.17
limbo	UTSW	1	105,620,685 (GRCm39)	missense	probably benign
IGL03050:Relch	UTSW	1	105,654,106 (GRCm39)	missense	probably damaging	0.98
R0022:Relch	UTSW	1	105,619,627 (GRCm39)	splice site	probably benign
R0399:Relch	UTSW	1	105,678,684 (GRCm39)	splice site	probably benign
R1243:Relch	UTSW	1	105,678,089 (GRCm39)	missense	probably damaging	1.00
R1563:Relch	UTSW	1	105,647,259 (GRCm39)	missense	probably damaging	1.00
R1760:Relch	UTSW	1	105,647,169 (GRCm39)	splice site	probably benign
R1894:Relch	UTSW	1	105,592,301 (GRCm39)	missense	probably benign	0.12
R2036:Relch	UTSW	1	105,670,979 (GRCm39)	missense	probably damaging	1.00
R2428:Relch	UTSW	1	105,673,851 (GRCm39)	missense	possibly damaging	0.88
R2905:Relch	UTSW	1	105,619,719 (GRCm39)	missense	probably benign	0.04
R3121:Relch	UTSW	1	105,653,524 (GRCm39)	missense	probably benign	0.15
R3750:Relch	UTSW	1	105,681,302 (GRCm39)	missense	probably damaging	1.00
R3886:Relch	UTSW	1	105,619,938 (GRCm39)	missense	probably benign	0.14
R4284:Relch	UTSW	1	105,649,012 (GRCm39)	missense	probably damaging	0.98
R4671:Relch	UTSW	1	105,646,584 (GRCm39)	missense	probably benign	0.00
R4706:Relch	UTSW	1	105,620,004 (GRCm39)	missense	probably benign	0.28
R4760:Relch	UTSW	1	105,649,030 (GRCm39)	missense	probably benign	0.17
R4776:Relch	UTSW	1	105,647,260 (GRCm39)	nonsense	probably null
R5031:Relch	UTSW	1	105,592,239 (GRCm39)	missense	probably damaging	1.00
R5051:Relch	UTSW	1	105,619,711 (GRCm39)	missense	possibly damaging	0.85
R5085:Relch	UTSW	1	105,605,905 (GRCm39)	missense	probably damaging	0.99
R5104:Relch	UTSW	1	105,658,965 (GRCm39)	missense	probably benign	0.45
R5187:Relch	UTSW	1	105,646,534 (GRCm39)	nonsense	probably null
R5259:Relch	UTSW	1	105,649,101 (GRCm39)	missense	probably benign	0.01
R5435:Relch	UTSW	1	105,668,975 (GRCm39)	intron	probably benign
R5444:Relch	UTSW	1	105,654,109 (GRCm39)	missense	possibly damaging	0.60
R5490:Relch	UTSW	1	105,647,226 (GRCm39)	missense	probably damaging	0.99
R5513:Relch	UTSW	1	105,678,698 (GRCm39)	missense	probably damaging	0.99
R5556:Relch	UTSW	1	105,620,892 (GRCm39)	missense	probably benign
R5734:Relch	UTSW	1	105,631,608 (GRCm39)	intron	probably benign
R5779:Relch	UTSW	1	105,615,072 (GRCm39)	missense	probably damaging	1.00
R5822:Relch	UTSW	1	105,646,581 (GRCm39)	missense	probably damaging	1.00
R5878:Relch	UTSW	1	105,620,685 (GRCm39)	missense	probably benign
R6015:Relch	UTSW	1	105,619,683 (GRCm39)	missense	probably damaging	1.00
R6051:Relch	UTSW	1	105,648,997 (GRCm39)	missense	probably damaging	1.00
R6266:Relch	UTSW	1	105,659,007 (GRCm39)	critical splice donor site	probably null
R6556:Relch	UTSW	1	105,654,165 (GRCm39)	missense	probably damaging	1.00
R6571:Relch	UTSW	1	105,620,707 (GRCm39)	missense	probably benign
R6612:Relch	UTSW	1	105,619,732 (GRCm39)	missense	possibly damaging	0.72
R6852:Relch	UTSW	1	105,681,320 (GRCm39)	missense	probably damaging	1.00
R7209:Relch	UTSW	1	105,678,082 (GRCm39)	missense	probably damaging	1.00
R7284:Relch	UTSW	1	105,662,308 (GRCm39)	missense	probably benign	0.01
R7292:Relch	UTSW	1	105,649,141 (GRCm39)	critical splice donor site	probably null
R7534:Relch	UTSW	1	105,668,748 (GRCm39)	missense	probably benign	0.01
R7740:Relch	UTSW	1	105,658,986 (GRCm39)	missense	probably damaging	1.00
R8036:Relch	UTSW	1	105,605,902 (GRCm39)	missense	probably damaging	1.00
R8234:Relch	UTSW	1	105,681,235 (GRCm39)	missense	possibly damaging	0.93
R8797:Relch	UTSW	1	105,678,121 (GRCm39)	missense	possibly damaging	0.54
R8819:Relch	UTSW	1	105,654,179 (GRCm39)	missense	possibly damaging	0.91
R8820:Relch	UTSW	1	105,654,179 (GRCm39)	missense	possibly damaging	0.91
R8880:Relch	UTSW	1	105,592,220 (GRCm39)	missense	probably damaging	0.99
R9173:Relch	UTSW	1	105,678,128 (GRCm39)	missense	probably benign
R9229:Relch	UTSW	1	105,614,709 (GRCm39)	missense	possibly damaging	0.95
R9307:Relch	UTSW	1	105,615,077 (GRCm39)	missense	probably benign	0.02
R9334:Relch	UTSW	1	105,654,179 (GRCm39)	missense	possibly damaging	0.91
R9412:Relch	UTSW	1	105,662,288 (GRCm39)	missense	probably benign	0.09
R9467:Relch	UTSW	1	105,669,039 (GRCm39)	missense	probably damaging	0.99
R9509:Relch	UTSW	1	105,614,704 (GRCm39)	missense	probably damaging	1.00
R9562:Relch	UTSW	1	105,591,876 (GRCm39)	missense	probably damaging	0.99
R9565:Relch	UTSW	1	105,591,876 (GRCm39)	missense	probably damaging	0.99
Z1176:Relch	UTSW	1	105,647,340 (GRCm39)	missense	probably benign	0.14

Posted On

2016-08-02