Incidental Mutation 'R5104:Relch'
| ID |
392530 |
| 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 |
042692-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.421)
|
| Stock # |
R5104 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105658965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 883
(V883A)
|
| 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
AA Change: V907A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: V907A
| 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
AA Change: V907A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: V907A
| 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 |
noncoding transcript
Transcript: ENSMUST00000185750
|
| 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 |
probably benign
Transcript: ENSMUST00000190501
AA Change: V883A
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: V883A
| 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: ENSMUST00000191293
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,158,121 (GRCm39) |
F109L |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,903,974 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Apof |
C |
T |
10: 128,105,487 (GRCm39) |
R214* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,929 (GRCm39) |
D259E |
possibly damaging |
Het |
| Atl2 |
A |
T |
17: 80,160,046 (GRCm39) |
S47T |
probably benign |
Het |
| Azgp1 |
T |
G |
5: 137,985,815 (GRCm39) |
I146S |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,112,182 (GRCm39) |
T1006I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,729 (GRCm39) |
N540I |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,325,346 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
G |
T |
9: 44,424,616 (GRCm39) |
P347Q |
probably benign |
Het |
| Cyp4a14 |
T |
G |
4: 115,353,126 (GRCm39) |
H62P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
A |
G |
17: 74,134,442 (GRCm39) |
N267S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,933,973 (GRCm39) |
Y58C |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,169,814 (GRCm39) |
Y2982H |
possibly damaging |
Het |
| Frmd3 |
C |
A |
4: 74,063,315 (GRCm39) |
A214D |
probably damaging |
Het |
| Gabrg1 |
A |
C |
5: 70,931,775 (GRCm39) |
S323A |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,228,007 (GRCm39) |
I592V |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,462 (GRCm39) |
Q107* |
probably null |
Het |
| Gm29609 |
T |
C |
5: 31,311,638 (GRCm39) |
|
probably null |
Het |
| Gpam |
A |
T |
19: 55,082,418 (GRCm39) |
F78I |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,515,377 (GRCm39) |
R252G |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,592 (GRCm39) |
S285C |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,507 (GRCm39) |
K37E |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Il6st |
C |
G |
13: 112,625,182 (GRCm39) |
T266S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,776,138 (GRCm39) |
T307A |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,269,265 (GRCm39) |
R2552C |
probably damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,758 (GRCm39) |
R369W |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,883,964 (GRCm39) |
M8K |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,582,040 (GRCm39) |
H528L |
possibly damaging |
Het |
| Mia3 |
A |
G |
1: 183,119,579 (GRCm39) |
L157S |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,140 (GRCm39) |
Y32* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,987,348 (GRCm39) |
Y381H |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,268,159 (GRCm39) |
V475A |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,246 (GRCm39) |
I347M |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,159 (GRCm39) |
K311* |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,539 (GRCm39) |
F223Y |
possibly damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,174 (GRCm39) |
S232T |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,885,507 (GRCm39) |
I420K |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,098,914 (GRCm39) |
C1990Y |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,655,415 (GRCm39) |
Q223L |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,964 (GRCm39) |
|
probably null |
Het |
| Proz |
A |
G |
8: 13,116,931 (GRCm39) |
D161G |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,158,364 (GRCm39) |
H765Q |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,703,619 (GRCm39) |
C101* |
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,862,451 (GRCm39) |
T36I |
probably benign |
Het |
| Rnase12 |
C |
A |
14: 51,294,361 (GRCm39) |
C106F |
probably damaging |
Het |
| Samd3 |
T |
C |
10: 26,139,686 (GRCm39) |
S273P |
possibly damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,175 (GRCm39) |
D841G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,260,908 (GRCm39) |
E607G |
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Snx25 |
T |
C |
8: 46,521,203 (GRCm39) |
*143W |
probably null |
Het |
| Taf15 |
A |
G |
11: 83,378,222 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,105,756 (GRCm39) |
V333A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,614,929 (GRCm39) |
S2P |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,925,142 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,170,257 (GRCm39) |
D585G |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,264,114 (GRCm39) |
S34P |
probably benign |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,745 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,347 (GRCm39) |
V115A |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,936,698 (GRCm39) |
E174G |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,600 (GRCm39) |
M469K |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,805,591 (GRCm39) |
|
probably benign |
Het |
| Wapl |
C |
T |
14: 34,414,016 (GRCm39) |
Q293* |
probably null |
Het |
| Wdr24 |
A |
G |
17: 26,043,565 (GRCm39) |
H129R |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,757,895 (GRCm39) |
|
probably null |
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 |
|
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'- TGTGCTAATGCCACTTCAGAAG -3'
(R):5'- AGACAAGCTGACTGCAGAATC -3'
Sequencing Primer
(F):5'- GCCACTTCAGAAGTATTAAGTTGTGG -3'
(R):5'- TGACTGCAGAATCATAAACCAATGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation