Mutagenetix > Incidental Mutation

Incidental Mutation 'R6571:Relch'

526224

Institutional Source

Beutler Lab

Gene Symbol

Relch

Ensembl Gene

ENSMUSG00000026319

Gene Name

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

Synonyms

2310035C23Rik

MMRRC Submission

044695-MU

Accession Numbers

Essential gene?

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

Stock #

R6571 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105591570-105682856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105620707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 394 (D394G)

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 benign
Transcript: ENSMUST00000039173
AA Change: D418G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: D418G

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 benign
Transcript: ENSMUST00000086721
AA Change: D418G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: D418G

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

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

probably benign
Transcript: ENSMUST00000190501
AA Change: D394G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: D394G

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,216,390 (GRCm39)	I161V	possibly damaging	Het
Adamts12	T	C	15: 11,065,187 (GRCm39)	F24S	probably benign	Het
Bche	G	T	3: 73,608,824 (GRCm39)	Q201K	probably benign	Het
Camsap1	A	T	2: 25,829,512 (GRCm39)	D757E	possibly damaging	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Dab2ip	T	C	2: 35,602,902 (GRCm39)	S399P	probably damaging	Het
Fbxo40	A	T	16: 36,789,668 (GRCm39)	C481S	probably damaging	Het
Fn1	T	A	1: 71,665,349 (GRCm39)	T923S	probably damaging	Het
Gm11437	T	C	11: 84,047,038 (GRCm39)	D147G	probably benign	Het
Gm5592	A	G	7: 40,937,999 (GRCm39)	E427G	probably damaging	Het
Gm6401	T	A	14: 41,787,452 (GRCm39)	I125F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,426,839 (GRCm39)	M600T	probably damaging	Het
Itgb6	T	C	2: 60,458,800 (GRCm39)	E374G	probably damaging	Het
Lrba	A	C	3: 86,267,367 (GRCm39)	S1686R	probably damaging	Het
Map3k4	T	C	17: 12,461,579 (GRCm39)	D1200G	possibly damaging	Het
Mmp25	T	C	17: 23,858,870 (GRCm39)	H227R	probably benign	Het
Or6c38	A	C	10: 128,928,990 (GRCm39)	N284K	probably damaging	Het
Papss2	G	A	19: 32,629,342 (GRCm39)		probably null	Het
Rasal2	T	A	1: 156,988,749 (GRCm39)	R718S	possibly damaging	Het
Rngtt	T	A	4: 33,379,413 (GRCm39)	D438E	probably damaging	Het
S1pr1	A	G	3: 115,505,452 (GRCm39)	S381P	possibly damaging	Het
Septin8	A	G	11: 53,427,990 (GRCm39)	E268G	probably damaging	Het
Slc6a21	A	G	7: 44,930,303 (GRCm39)	K234R	probably damaging	Het
Smg1	A	G	7: 117,783,737 (GRCm39)		probably benign	Het
Sntg1	T	C	1: 8,433,752 (GRCm39)		probably benign	Het
Spag5	G	T	11: 78,212,095 (GRCm39)	R1041I	probably damaging	Het
Spata31d1b	A	T	13: 59,865,269 (GRCm39)	M806L	probably benign	Het
Tnfrsf18	T	A	4: 156,112,776 (GRCm39)	L154*	probably null	Het
Trib2	T	C	12: 15,844,060 (GRCm39)	E194G	probably damaging	Het
Vmn2r33	A	G	7: 7,566,668 (GRCm39)	V148A	probably benign	Het
Wiz	G	A	17: 32,578,298 (GRCm39)	R405W	probably damaging	Het
Zfp747l1	T	C	7: 126,984,310 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCACTCACGAGCTAATTGAC -3'
(R):5'- GCTGATCGAAATGGAGCGTG -3'

Sequencing Primer
(F):5'- ATTCACTCCTTCGCTGGGGG -3'
(R):5'- AGCGTGGTTTTATTTGATACAGAAG -3'

Posted On

2018-06-22