Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02655:Relch'

302314

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 #

IGL02655

Quality Score

Status

Chromosome

Chromosomal Location

105591570-105682856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105605971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 204 (V204M)

Ref Sequence

ENSEMBL: ENSMUSP00000140699 (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: V204M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: V204M

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: V204M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: V204M

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 damaging
Transcript: ENSMUST00000186807
AA Change: V204M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319
AA Change: V204M

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: ENSMUST00000189091

Predicted Effect

probably damaging
Transcript: ENSMUST00000190501
AA Change: V204M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: V204M

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,498 (GRCm39)	S68T	possibly damaging	Het
4930544G11Rik	T	G	6: 65,930,074 (GRCm39)	V103G	probably damaging	Het
Adam7	A	T	14: 68,754,060 (GRCm39)	D346E	probably damaging	Het
Adamts1	A	G	16: 85,599,505 (GRCm39)	S32P	probably benign	Het
Adamtsl2	T	C	2: 26,972,542 (GRCm39)		probably benign	Het
Adgrb2	C	A	4: 129,885,972 (GRCm39)	Y37*	probably null	Het
Apba3	A	G	10: 81,108,788 (GRCm39)	R547G	probably benign	Het
Ccnd2	C	T	6: 127,125,733 (GRCm39)	G101D	probably damaging	Het
Cpm	A	G	10: 117,519,186 (GRCm39)	T365A	probably benign	Het
Cpt2	A	G	4: 107,764,624 (GRCm39)	V380A	probably damaging	Het
Dnah7b	A	T	1: 46,155,461 (GRCm39)		probably benign	Het
Enpp1	A	C	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Ermp1	C	A	19: 29,623,610 (GRCm39)	E127*	probably null	Het
Evi5	T	C	5: 107,961,446 (GRCm39)	K375R	probably benign	Het
Gm11564	A	T	11: 99,705,982 (GRCm39)	C149*	probably null	Het
Golgb1	A	T	16: 36,738,442 (GRCm39)	E2260D	probably damaging	Het
Gpc2	T	C	5: 138,277,187 (GRCm39)	D80G	possibly damaging	Het
Hsd11b2	A	G	8: 106,248,960 (GRCm39)	I151V	probably benign	Het
Knl1	T	C	2: 118,901,473 (GRCm39)	I1058T	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,454 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,536,780 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,315,748 (GRCm39)	R38H	probably damaging	Het
Nsmaf	A	G	4: 6,424,933 (GRCm39)	F272L	possibly damaging	Het
Pcyox1	A	T	6: 86,366,326 (GRCm39)	V78E	probably damaging	Het
Pkp1	G	T	1: 135,817,511 (GRCm39)	T208N	probably benign	Het
Plagl2	T	C	2: 153,074,337 (GRCm39)	E188G	probably damaging	Het
Pramel15	A	G	4: 144,099,416 (GRCm39)	F450L	probably benign	Het
Ric1	T	A	19: 29,572,851 (GRCm39)	S764T	probably damaging	Het
Sec24a	G	A	11: 51,625,482 (GRCm39)	T247M	probably benign	Het
Slc25a17	C	T	15: 81,207,844 (GRCm39)	R248Q	probably benign	Het
Stk36	C	T	1: 74,673,694 (GRCm39)	P1068S	probably damaging	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Tfec	C	T	6: 16,834,308 (GRCm39)	A200T	possibly damaging	Het
Vmn2r4	A	G	3: 64,305,886 (GRCm39)	I512T	probably 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
IGL02992:Relch	APN	1	105,647,189 (GRCm39)	missense	possibly damaging	0.89
IGL03170:Relch	APN	1	105,663,680 (GRCm39)	missense	probably damaging	0.99
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

2015-04-16