Mutagenetix > Incidental Mutation

Incidental Mutation 'R3750:Relch'

310124

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

040735-MU

Accession Numbers

Essential gene?

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

Stock #

R3750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105591570-105682856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105681302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1178 (T1178I)

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: T1202I

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

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: T1202I

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: T1202I

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

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: T1202I

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

noncoding transcript
Transcript: ENSMUST00000188588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190459

Predicted Effect

probably damaging
Transcript: ENSMUST00000190501
AA Change: T1178I

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

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: T1178I

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

Meta Mutation Damage Score

0.1037

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,445,936 (GRCm39)	N319K	possibly damaging	Het
Clcn6	G	T	4: 148,108,644 (GRCm39)	C128*	probably null	Het
Col6a4	C	A	9: 105,897,864 (GRCm39)		probably null	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dlg5	G	A	14: 24,215,328 (GRCm39)	A665V	probably damaging	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Hsd17b3	A	T	13: 64,210,993 (GRCm39)		probably null	Het
Kcnc4	A	G	3: 107,355,506 (GRCm39)	V314A	probably benign	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Marcks	G	A	10: 37,016,866 (GRCm39)		probably benign	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nefh	A	G	11: 4,889,937 (GRCm39)	V894A	probably benign	Het
Pdzph1	A	T	17: 59,280,331 (GRCm39)	Y650*	probably null	Het
Plce1	A	C	19: 38,766,343 (GRCm39)	I2109L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Rtca	A	T	3: 116,286,650 (GRCm39)	F327L	probably benign	Het
Scn2a	T	G	2: 65,544,115 (GRCm39)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Skil	A	G	3: 31,170,983 (GRCm39)	N354S	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Spata31	G	T	13: 65,069,557 (GRCm39)	L568F	probably benign	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Tcp11l1	A	G	2: 104,528,887 (GRCm39)	I137T	probably damaging	Het
Ttn	G	A	2: 76,584,350 (GRCm39)	H22253Y	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Usp1	C	T	4: 98,822,357 (GRCm39)		probably null	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATGTGTGGTGTTAACTGC -3'
(R):5'- GCAGTGCAAATATCTTTGGAGG -3'

Sequencing Primer
(F):5'- CTCAGTAGGTTAAGGCACTGC -3'
(R):5'- CAGTGCAAATATCTTTGGAGGTTAGG -3'

Posted On

2015-04-17