Incidental Mutation 'R8036:Relch'
| ID |
618214 |
| 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 |
067473-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R8036 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105605902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 181
(I181F)
|
| 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 |
probably damaging
Transcript: ENSMUST00000039173
AA Change: I181F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: I181F
| 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: I181F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: I181F
| 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 damaging
Transcript: ENSMUST00000186807
AA Change: I181F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319
AA Change: I181F
| 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 |
probably damaging
Transcript: ENSMUST00000190501
AA Change: I181F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: I181F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,236,818 (GRCm39) |
V1473A |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,120,397 (GRCm39) |
C3604* |
probably null |
Het |
| Alas1 |
A |
G |
9: 106,112,721 (GRCm39) |
I545T |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,491,646 (GRCm39) |
D118E |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,579,062 (GRCm39) |
S629T |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,266,625 (GRCm39) |
R558C |
probably damaging |
Het |
| Camk2n1 |
A |
G |
4: 138,184,056 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,804,897 (GRCm39) |
N459S |
unknown |
Het |
| Cenpe |
ACTCTCT |
ACTCT |
3: 134,945,609 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
C |
1: 139,165,122 (GRCm39) |
I1062V |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,301,962 (GRCm39) |
L256P |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,501,739 (GRCm39) |
M507V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,803 (GRCm39) |
I539T |
probably damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,788 (GRCm39) |
V264E |
probably damaging |
Het |
| Enpp4 |
A |
G |
17: 44,413,136 (GRCm39) |
S133P |
possibly damaging |
Het |
| Fam149a |
T |
C |
8: 45,802,048 (GRCm39) |
T476A |
probably benign |
Het |
| Fam20b |
A |
G |
1: 156,533,407 (GRCm39) |
W70R |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,728,566 (GRCm39) |
N508Y |
probably damaging |
Het |
| Fjx1 |
A |
G |
2: 102,280,720 (GRCm39) |
L405P |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,629,310 (GRCm39) |
Q2399* |
probably null |
Het |
| Foxa2 |
G |
C |
2: 147,885,909 (GRCm39) |
T308S |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,723,752 (GRCm39) |
D21G |
unknown |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,119,014 (GRCm39) |
E256G |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,528,414 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lamp3 |
C |
A |
16: 19,519,809 (GRCm39) |
D125Y |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,724,823 (GRCm39) |
D128G |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,458,649 (GRCm39) |
C105R |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,060,086 (GRCm39) |
V100E |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,478 (GRCm39) |
S4323P |
possibly damaging |
Het |
| Myoz3 |
T |
G |
18: 60,713,922 (GRCm39) |
|
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,070,864 (GRCm39) |
N906Y |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,592,276 (GRCm39) |
D352G |
probably benign |
Het |
| Or10x4 |
A |
G |
1: 174,219,382 (GRCm39) |
H249R |
probably damaging |
Het |
| Or51f23 |
A |
T |
7: 102,452,763 (GRCm39) |
H26L |
possibly damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,186 (GRCm39) |
F223S |
probably benign |
Het |
| Or8w1 |
C |
T |
2: 87,465,847 (GRCm39) |
M81I |
probably benign |
Het |
| Pcsk9 |
G |
A |
4: 106,311,536 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,063,380 (GRCm39) |
I2230T |
possibly damaging |
Het |
| Pou2f3 |
T |
A |
9: 43,058,205 (GRCm39) |
T47S |
probably damaging |
Het |
| Rab8a |
A |
T |
8: 72,928,439 (GRCm39) |
I106F |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,041,439 (GRCm39) |
S295T |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,098 (GRCm39) |
N222K |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,963 (GRCm39) |
I778L |
probably benign |
Het |
| Taar1 |
A |
T |
10: 23,797,033 (GRCm39) |
T244S |
probably benign |
Het |
| Tmem229b |
C |
A |
12: 79,011,862 (GRCm39) |
C23F |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,389 (GRCm39) |
Y80C |
probably benign |
Het |
| Ube2m |
G |
A |
7: 12,769,566 (GRCm39) |
T176I |
probably benign |
Het |
| Zfp790 |
G |
A |
7: 29,528,346 (GRCm39) |
A344T |
possibly damaging |
Het |
| Zfp90 |
G |
A |
8: 107,145,760 (GRCm39) |
V31M |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,949,918 (GRCm39) |
R659Q |
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 |
|
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 |
|
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'- ATGCTTGGTTCATAAGTGGGAC -3'
(R):5'- AGCTTGCCACAAGGAAAATTTAGC -3'
Sequencing Primer
(F):5'- GTTCATAAGTGGGACATAAATTTGGG -3'
(R):5'- GCCACAAGGAAAATTTAGCAAATTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation