Incidental Mutation 'R5734:Relch'
ID |
451567 |
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 |
043348-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R5734 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 105631608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000039178 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 |
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
|
SMART Domains |
Protein: ENSMUSP00000083926 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 |
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: ENSMUST00000188969
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190501
|
SMART Domains |
Protein: ENSMUSP00000141162 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 |
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: ENSMUST00000192363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191293
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
G |
9: 46,215,303 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,571,457 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
G |
A |
11: 50,679,494 (GRCm39) |
G825R |
probably damaging |
Het |
Adgre1 |
A |
T |
17: 57,750,990 (GRCm39) |
R555W |
probably benign |
Het |
Apob |
T |
A |
12: 8,038,781 (GRCm39) |
V398D |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,334,856 (GRCm39) |
N355S |
probably benign |
Het |
Asb3 |
G |
T |
11: 30,979,021 (GRCm39) |
D143Y |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,925,419 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,310,360 (GRCm39) |
M1425V |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,332,583 (GRCm39) |
E474G |
probably damaging |
Het |
Capza2 |
T |
C |
6: 17,660,764 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
A |
G |
13: 100,823,622 (GRCm39) |
N202S |
possibly damaging |
Het |
Ccn1 |
A |
G |
3: 145,354,023 (GRCm39) |
C256R |
probably damaging |
Het |
Chrm5 |
T |
A |
2: 112,310,445 (GRCm39) |
T224S |
probably benign |
Het |
Chtop |
C |
T |
3: 90,409,422 (GRCm39) |
|
probably null |
Het |
Clip1 |
T |
C |
5: 123,753,217 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,552,604 (GRCm39) |
T14A |
possibly damaging |
Het |
Dcaf8 |
T |
C |
1: 172,000,478 (GRCm39) |
V212A |
possibly damaging |
Het |
Fam114a1 |
T |
C |
5: 65,166,389 (GRCm39) |
M240T |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,504,246 (GRCm39) |
Y4580H |
probably damaging |
Het |
Glipr1 |
G |
A |
10: 111,821,698 (GRCm39) |
R200* |
probably null |
Het |
Gm6408 |
A |
T |
5: 146,419,192 (GRCm39) |
Y69F |
probably benign |
Het |
Gpt2 |
T |
C |
8: 86,249,885 (GRCm39) |
S456P |
probably benign |
Het |
Kat8 |
T |
C |
7: 127,519,751 (GRCm39) |
F225S |
probably benign |
Het |
Lactb2 |
T |
A |
1: 13,730,611 (GRCm39) |
N22Y |
probably damaging |
Het |
Lin28a |
A |
T |
4: 133,735,284 (GRCm39) |
C67* |
probably null |
Het |
Mtarc2 |
T |
C |
1: 184,564,786 (GRCm39) |
E155G |
probably benign |
Het |
Myoz3 |
G |
A |
18: 60,712,543 (GRCm39) |
T104M |
possibly damaging |
Het |
Nek9 |
C |
T |
12: 85,350,289 (GRCm39) |
M928I |
probably benign |
Het |
Nlrp9a |
G |
C |
7: 26,270,065 (GRCm39) |
A831P |
probably damaging |
Het |
Nop53 |
T |
C |
7: 15,679,887 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
T |
A |
13: 40,241,325 (GRCm39) |
T728S |
probably damaging |
Het |
Pabpc4l |
T |
A |
3: 46,401,124 (GRCm39) |
|
probably null |
Het |
Rbm34 |
T |
C |
8: 127,696,880 (GRCm39) |
|
probably null |
Het |
Robo2 |
C |
T |
16: 74,149,672 (GRCm39) |
C52Y |
probably damaging |
Het |
Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,548,066 (GRCm39) |
Y57C |
possibly damaging |
Het |
Selp |
C |
T |
1: 163,971,460 (GRCm39) |
|
probably benign |
Het |
Skp2 |
T |
C |
15: 9,139,566 (GRCm39) |
D43G |
possibly damaging |
Het |
Smad5 |
T |
A |
13: 56,871,617 (GRCm39) |
S71T |
probably damaging |
Het |
Sorcs1 |
G |
T |
19: 50,171,213 (GRCm39) |
H892N |
probably benign |
Het |
Sox6 |
C |
T |
7: 115,140,856 (GRCm39) |
|
probably null |
Het |
St3gal1 |
A |
T |
15: 66,978,522 (GRCm39) |
I333N |
probably damaging |
Het |
Tex15 |
C |
A |
8: 34,036,364 (GRCm39) |
Q97K |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,917,884 (GRCm39) |
T2266S |
possibly damaging |
Het |
Tpbgl |
C |
A |
7: 99,274,949 (GRCm39) |
G303C |
probably damaging |
Het |
Trat1 |
A |
T |
16: 48,555,304 (GRCm39) |
S143T |
possibly damaging |
Het |
Trpm8 |
T |
A |
1: 88,283,002 (GRCm39) |
V763E |
probably benign |
Het |
Ttc21a |
G |
A |
9: 119,795,732 (GRCm39) |
D1189N |
probably benign |
Het |
Usp7 |
T |
C |
16: 8,519,845 (GRCm39) |
N178D |
possibly damaging |
Het |
Zfp217 |
T |
C |
2: 169,961,064 (GRCm39) |
D421G |
possibly damaging |
Het |
Zfp382 |
T |
C |
7: 29,833,855 (GRCm39) |
F502S |
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 |
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 |
|
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'- AACCCTAGTGGAACATTGGAC -3'
(R):5'- GGAACTAACATTATGTCAGCATTGC -3'
Sequencing Primer
(F):5'- CCTAGTGGAACATTGGACAATACC -3'
(R):5'- GCATTTTGTATCCCCAAAGCAG -3'
|
Posted On |
2017-01-03 |