Mutagenetix > Incidental Mutation

Incidental Mutation 'R2428:Relch'

250293

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

040390-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R2428 (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 105673851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1080 (S1080L)

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

possibly damaging
Transcript: ENSMUST00000039173
AA Change: S1104L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: S1104L

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

possibly damaging
Transcript: ENSMUST00000086721
AA Change: S1104L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: S1104L

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

possibly damaging
Transcript: ENSMUST00000190501
AA Change: S1080L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: S1080L

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	A	3: 36,145,072 (GRCm39)	A624T	probably benign	Het
Astn1	C	T	1: 158,439,916 (GRCm39)	A828V	possibly damaging	Het
Bag6	A	C	17: 35,366,151 (GRCm39)	D1117A	probably damaging	Het
Col12a1	A	T	9: 79,509,533 (GRCm39)	C3042S	probably benign	Het
Ctc1	G	A	11: 68,918,527 (GRCm39)	V265I	possibly damaging	Het
Cubn	T	C	2: 13,480,961 (GRCm39)	Y298C	probably damaging	Het
Dmtn	G	A	14: 70,850,843 (GRCm39)	R183W	probably damaging	Het
F2rl2	T	A	13: 95,833,585 (GRCm39)	I5N	possibly damaging	Het
Gpr137c	A	G	14: 45,516,420 (GRCm39)	Y336C	probably damaging	Het
Gstm6	T	A	3: 107,850,922 (GRCm39)	I10F	possibly damaging	Het
Hivep3	T	A	4: 119,955,705 (GRCm39)	C1340*	probably null	Het
Igf1	A	G	10: 87,700,683 (GRCm39)	T36A	probably damaging	Het
Lrch1	T	A	14: 75,044,985 (GRCm39)		probably benign	Het
Mrpl40	A	T	16: 18,691,125 (GRCm39)	I195N	probably damaging	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ndufc1	A	C	3: 51,315,564 (GRCm39)		probably null	Het
Nfasc	T	C	1: 132,523,392 (GRCm39)	N973S	possibly damaging	Het
Or4f62	G	A	2: 111,986,787 (GRCm39)	V164I	probably benign	Het
Or51a43	G	A	7: 103,717,675 (GRCm39)	R188*	probably null	Het
Or6c212	T	C	10: 129,558,652 (GRCm39)	I254V	probably benign	Het
Or9g19	A	T	2: 85,600,322 (GRCm39)	Y59F	probably damaging	Het
Pkdrej	C	A	15: 85,701,773 (GRCm39)	E1388*	probably null	Het
Prrc2b	T	A	2: 32,106,067 (GRCm39)	D1482E	probably benign	Het
Sppl2a	A	T	2: 126,754,615 (GRCm39)	S403R	possibly damaging	Het
Tespa1	A	G	10: 130,197,944 (GRCm39)	D322G	probably damaging	Het
Tmcc2	C	T	1: 132,288,569 (GRCm39)	V373M	probably damaging	Het
Ttn	T	C	2: 76,644,517 (GRCm39)	N13079S	possibly damaging	Het
Wdr53	A	G	16: 32,071,008 (GRCm39)	I118V	probably benign	Het
Zdbf2	T	C	1: 63,344,774 (GRCm39)	M1051T	probably benign	Het
Zfp784	G	C	7: 5,041,357 (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
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

Predicted Primers

PCR Primer
(F):5'- GTCCTCAGAACTAACTGGACAG -3'
(R):5'- GTGGCAAAATTGAATCAAAACTGCC -3'

Sequencing Primer
(F):5'- ACTAACTGGACAGTAGCTATAGTG -3'
(R):5'- TTGAATCAAAACTGCCAAAAAGTC -3'

Posted On

2014-11-12