Incidental Mutation 'R0399:Relch'
| ID |
38029 |
| 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 |
038604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.421)
|
| Stock # |
R0399 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 105678684 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: ENSMUST00000188588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190459
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,231,174 (GRCm39) |
M120T |
unknown |
Het |
| Actr1a |
A |
T |
19: 46,373,450 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
A |
T |
5: 122,929,816 (GRCm39) |
V555D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,108,008 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
G |
1: 171,232,384 (GRCm39) |
E343G |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,267,998 (GRCm39) |
T291I |
possibly damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,869,536 (GRCm39) |
Y439* |
probably null |
Het |
| Auts2 |
A |
T |
5: 131,469,362 (GRCm39) |
S428T |
probably benign |
Het |
| B3gnt7 |
T |
A |
1: 86,233,433 (GRCm39) |
C109* |
probably null |
Het |
| C4b |
C |
A |
17: 34,947,843 (GRCm39) |
Q1657H |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,544,225 (GRCm39) |
L268* |
probably null |
Het |
| Cep290 |
G |
A |
10: 100,390,262 (GRCm39) |
|
probably benign |
Het |
| Cep68 |
T |
G |
11: 20,180,571 (GRCm39) |
I687L |
probably benign |
Het |
| Chd6 |
T |
A |
2: 160,894,608 (GRCm39) |
D84V |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,230,051 (GRCm39) |
T514A |
probably benign |
Het |
| Cox18 |
A |
T |
5: 90,362,887 (GRCm39) |
C324S |
probably benign |
Het |
| Cryzl2 |
T |
C |
1: 157,289,586 (GRCm39) |
Y75H |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,640,016 (GRCm39) |
A339V |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,765,171 (GRCm39) |
L1721P |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,380,818 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
| Ehf |
A |
G |
2: 103,097,215 (GRCm39) |
Y246H |
probably damaging |
Het |
| Epas1 |
T |
C |
17: 87,112,621 (GRCm39) |
V73A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,592 (GRCm39) |
I1009T |
possibly damaging |
Het |
| Glis3 |
A |
T |
19: 28,276,168 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
A |
T |
16: 77,649,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,200,346 (GRCm39) |
I387N |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,076,853 (GRCm39) |
D83G |
probably damaging |
Het |
| Grid2 |
A |
G |
6: 64,643,036 (GRCm39) |
I933V |
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,720,196 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,314 (GRCm39) |
S656R |
possibly damaging |
Het |
| Il11ra1 |
A |
T |
4: 41,766,185 (GRCm39) |
T241S |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,606 (GRCm39) |
I760V |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,314,958 (GRCm39) |
E360G |
possibly damaging |
Het |
| Klf9 |
A |
T |
19: 23,119,446 (GRCm39) |
S110C |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,935 (GRCm39) |
N217S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,262 (GRCm39) |
Y1077C |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,517,529 (GRCm39) |
|
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,081 (GRCm39) |
H626Q |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,342,558 (GRCm39) |
L40Q |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,336,299 (GRCm39) |
A1530V |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,209,075 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
A |
T |
5: 121,573,553 (GRCm39) |
M761L |
probably benign |
Het |
| Ncln |
G |
A |
10: 81,324,131 (GRCm39) |
A465V |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,550 (GRCm39) |
N98S |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,576 (GRCm39) |
V150E |
probably benign |
Het |
| Or5a1 |
G |
C |
19: 12,097,734 (GRCm39) |
A114G |
possibly damaging |
Het |
| Or6d15 |
C |
A |
6: 116,559,742 (GRCm39) |
S55I |
probably benign |
Het |
| Or8b4 |
G |
T |
9: 37,830,849 (GRCm39) |
A304S |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,248 (GRCm39) |
I157M |
possibly damaging |
Het |
| Pacsin2 |
T |
C |
15: 83,270,983 (GRCm39) |
Y222C |
probably damaging |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,221 (GRCm39) |
T151M |
possibly damaging |
Het |
| Plcz1 |
C |
A |
6: 139,968,956 (GRCm39) |
V161L |
possibly damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,136 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
T |
A |
11: 116,494,818 (GRCm39) |
Y286F |
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Slc35c2 |
A |
C |
2: 165,122,815 (GRCm39) |
Y156* |
probably null |
Het |
| Spata46 |
A |
G |
1: 170,139,106 (GRCm39) |
D35G |
probably damaging |
Het |
| Tmed3 |
A |
G |
9: 89,584,926 (GRCm39) |
F110L |
possibly damaging |
Het |
| Tmem104 |
T |
G |
11: 115,092,134 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,991 (GRCm39) |
V320E |
possibly damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,664 (GRCm39) |
D190G |
probably damaging |
Het |
| Tspan2 |
A |
G |
3: 102,666,701 (GRCm39) |
T26A |
probably damaging |
Het |
| Usp17lb |
A |
C |
7: 104,490,358 (GRCm39) |
Y190D |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,770,973 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,656,841 (GRCm39) |
D121E |
probably damaging |
Het |
| Vmn1r80 |
T |
A |
7: 11,927,244 (GRCm39) |
M118K |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,794 (GRCm39) |
S300G |
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 |
|
|
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 |
|
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'- ACTGTCACACTCTTGGCACATAAGC -3'
(R):5'- GCACCCTTCCTCAAGATTGCATCAG -3'
Sequencing Primer
(F):5'- AGCCTACTTGCATGTCAGAG -3'
(R):5'- tctgcctgcttctgctg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation