Incidental Mutation 'R9334:Relch'
ID |
706966 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R9334 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105654179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 873
(F873L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039178
(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: F873L
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039178 Gene: ENSMUSG00000026319 AA Change: F873L
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: F873L
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083926 Gene: ENSMUSG00000026319 AA Change: F873L
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 |
possibly damaging
Transcript: ENSMUST00000190501
AA Change: F849L
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141162 Gene: ENSMUSG00000026319 AA Change: F849L
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 |
0.2615 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
A |
T |
1: 36,739,251 (GRCm39) |
I346N |
probably damaging |
Het |
Adam6b |
A |
C |
12: 113,454,768 (GRCm39) |
E528D |
probably damaging |
Het |
Ang |
A |
G |
14: 51,339,017 (GRCm39) |
M53V |
possibly damaging |
Het |
Ankrd26 |
G |
A |
6: 118,509,262 (GRCm39) |
A601V |
probably benign |
Het |
Atp6v0d2 |
A |
G |
4: 19,890,695 (GRCm39) |
L155P |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,296,594 (GRCm39) |
V1204A |
probably damaging |
Het |
Car4 |
A |
G |
11: 84,855,415 (GRCm39) |
I183V |
probably benign |
Het |
Ccdc149 |
G |
T |
5: 52,578,171 (GRCm39) |
A87E |
possibly damaging |
Het |
Ccdc88b |
A |
G |
19: 6,833,541 (GRCm39) |
M208T |
possibly damaging |
Het |
Ccnt2 |
T |
C |
1: 127,723,046 (GRCm39) |
L162S |
probably damaging |
Het |
Cd27 |
A |
G |
6: 125,213,718 (GRCm39) |
|
probably null |
Het |
Cfap44 |
C |
A |
16: 44,239,654 (GRCm39) |
T567K |
probably damaging |
Het |
Cpne5 |
C |
T |
17: 29,423,673 (GRCm39) |
V152M |
probably benign |
Het |
Cyp2u1 |
C |
T |
3: 131,092,065 (GRCm39) |
V152M |
probably damaging |
Het |
Dnajc13 |
A |
T |
9: 104,051,659 (GRCm39) |
F1733I |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,403,027 (GRCm39) |
Y1409C |
probably damaging |
Het |
Ecm2 |
T |
C |
13: 49,677,815 (GRCm39) |
M367T |
probably benign |
Het |
Eif4g2 |
A |
G |
7: 110,674,031 (GRCm39) |
S658P |
possibly damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,397,117 (GRCm39) |
L666P |
probably damaging |
Het |
Fbxl4 |
G |
A |
4: 22,376,778 (GRCm39) |
M71I |
probably damaging |
Het |
Fbxw10 |
T |
C |
11: 62,765,910 (GRCm39) |
S727P |
possibly damaging |
Het |
Fem1b |
A |
T |
9: 62,703,604 (GRCm39) |
L552* |
probably null |
Het |
Filip1 |
A |
T |
9: 79,725,739 (GRCm39) |
V960D |
probably benign |
Het |
Glipr1l3 |
A |
T |
10: 111,979,948 (GRCm39) |
M198K |
probably benign |
Het |
Gm19410 |
T |
A |
8: 36,270,722 (GRCm39) |
C1216* |
probably null |
Het |
Gmps |
T |
A |
3: 63,889,864 (GRCm39) |
V81E |
probably damaging |
Het |
Gpr150 |
G |
T |
13: 76,204,103 (GRCm39) |
Q281K |
probably benign |
Het |
Grsf1 |
A |
G |
5: 88,820,469 (GRCm39) |
V221A |
probably damaging |
Het |
Gsc |
T |
A |
12: 104,439,353 (GRCm39) |
I8F |
probably damaging |
Het |
Homer2 |
A |
T |
7: 81,261,078 (GRCm39) |
C284* |
probably null |
Het |
Hrg |
T |
A |
16: 22,780,061 (GRCm39) |
H446Q |
unknown |
Het |
Jag1 |
C |
T |
2: 136,943,593 (GRCm39) |
R201H |
probably damaging |
Het |
Kctd15 |
C |
T |
7: 34,341,483 (GRCm39) |
R148H |
possibly damaging |
Het |
Klhdc7a |
G |
A |
4: 139,693,493 (GRCm39) |
R485C |
probably benign |
Het |
Ldhd |
T |
A |
8: 112,353,980 (GRCm39) |
I407F |
probably benign |
Het |
Lgals12 |
G |
A |
19: 7,578,086 (GRCm39) |
R192C |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
Lum |
A |
T |
10: 97,404,347 (GRCm39) |
I81F |
probably damaging |
Het |
Map1b |
G |
T |
13: 99,568,148 (GRCm39) |
D1524E |
unknown |
Het |
Marveld3 |
A |
G |
8: 110,675,036 (GRCm39) |
L260S |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,942,203 (GRCm39) |
R555H |
probably benign |
Het |
Mrpl37 |
G |
A |
4: 106,921,605 (GRCm39) |
T208I |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,838,490 (GRCm39) |
T498S |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,047,360 (GRCm39) |
C289R |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,716,369 (GRCm39) |
F1459Y |
probably damaging |
Het |
Neurl4 |
C |
A |
11: 69,796,792 (GRCm39) |
R518S |
probably damaging |
Het |
Nmnat2 |
T |
G |
1: 152,949,585 (GRCm39) |
V43G |
probably damaging |
Het |
Or2b11 |
T |
C |
11: 59,462,272 (GRCm39) |
Y98C |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,459,840 (GRCm39) |
F120L |
probably benign |
Het |
Or6c6c |
A |
G |
10: 129,541,683 (GRCm39) |
N312S |
probably benign |
Het |
Otog |
A |
G |
7: 45,909,353 (GRCm39) |
T608A |
possibly damaging |
Het |
Pck2 |
G |
A |
14: 55,785,283 (GRCm39) |
R482Q |
probably damaging |
Het |
Pcx |
G |
A |
19: 4,670,532 (GRCm39) |
M1013I |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,630 (GRCm39) |
M200T |
probably benign |
Het |
Pigt |
CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
2: 164,349,420 (GRCm39) |
|
probably null |
Het |
Pramel32 |
A |
T |
4: 88,548,186 (GRCm39) |
I73K |
probably damaging |
Het |
Ptpn4 |
T |
C |
1: 119,730,114 (GRCm39) |
H26R |
probably benign |
Het |
Ralgps2 |
T |
A |
1: 156,715,599 (GRCm39) |
E72V |
probably damaging |
Het |
Scube1 |
A |
T |
15: 83,512,264 (GRCm39) |
C396S |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,410,550 (GRCm39) |
N283K |
possibly damaging |
Het |
Setx |
T |
A |
2: 29,044,032 (GRCm39) |
Y1800* |
probably null |
Het |
Sgce |
G |
T |
6: 4,707,205 (GRCm39) |
S213R |
probably damaging |
Het |
Skic3 |
C |
A |
13: 76,281,076 (GRCm39) |
T704N |
possibly damaging |
Het |
Slc36a2 |
T |
C |
11: 55,075,865 (GRCm39) |
|
probably benign |
Het |
Sult5a1 |
A |
T |
8: 123,875,146 (GRCm39) |
D129E |
probably damaging |
Het |
Tacr1 |
A |
T |
6: 82,380,913 (GRCm39) |
H108L |
probably damaging |
Het |
Tnfsf10 |
T |
A |
3: 27,389,496 (GRCm39) |
Y186N |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,688,919 (GRCm39) |
S2428P |
possibly damaging |
Het |
Vwf |
G |
A |
6: 125,654,909 (GRCm39) |
R2535H |
|
Het |
Zfp532 |
A |
G |
18: 65,756,128 (GRCm39) |
I20M |
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 |
|
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 |
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'- GTTGCAGGCAGATTATGGAGAC -3'
(R):5'- ACGCCTATGGTAAAAGCCTTTG -3'
Sequencing Primer
(F):5'- GGAGACAGTCATTTACATGTGCCC -3'
(R):5'- AAGCCTTTGATAGATTTACTGTGGC -3'
|
Posted On |
2022-04-18 |