Incidental Mutation 'R7534:Relch'
ID |
583436 |
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 |
045606-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R7534 (G1)
|
Quality Score |
108.008 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 105668748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 993
(R993Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083926
(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
AA Change: R993Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083926 Gene: ENSMUSG00000026319 AA Change: R993Q
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
A |
C |
17: 35,390,390 (GRCm39) |
M120R |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,727,982 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
Apc |
T |
C |
18: 34,450,015 (GRCm39) |
S2304P |
probably damaging |
Het |
AW551984 |
A |
T |
9: 39,502,777 (GRCm39) |
C632S |
probably benign |
Het |
Bicra |
T |
C |
7: 15,705,860 (GRCm39) |
N1527S |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,801,319 (GRCm39) |
L1363P |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,301,904 (GRCm39) |
P2037S |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,399,240 (GRCm39) |
L724S |
probably damaging |
Het |
Cttnbp2 |
C |
T |
6: 18,420,764 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
A |
7: 105,421,580 (GRCm39) |
A280V |
probably benign |
Het |
Dclk3 |
G |
A |
9: 111,297,286 (GRCm39) |
G277R |
probably benign |
Het |
Ddr1 |
A |
G |
17: 35,993,514 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
C |
1: 46,809,227 (GRCm39) |
D3515A |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,672,172 (GRCm39) |
T49M |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,631,060 (GRCm39) |
F40I |
probably damaging |
Het |
Fancd2os |
T |
C |
6: 113,574,601 (GRCm39) |
H135R |
probably benign |
Het |
Fer1l6 |
A |
G |
15: 58,509,875 (GRCm39) |
I1446V |
probably damaging |
Het |
Fyb2 |
T |
A |
4: 104,856,545 (GRCm39) |
Y584* |
probably null |
Het |
Galnt16 |
A |
T |
12: 80,643,909 (GRCm39) |
L442F |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,432,973 (GRCm39) |
|
probably benign |
Het |
Ggta1 |
C |
T |
2: 35,292,440 (GRCm39) |
R289Q |
probably damaging |
Het |
Gm11564 |
T |
C |
11: 99,706,347 (GRCm39) |
T28A |
unknown |
Het |
Hcn1 |
A |
G |
13: 118,111,961 (GRCm39) |
T642A |
unknown |
Het |
Hhat |
A |
T |
1: 192,408,612 (GRCm39) |
L173H |
probably damaging |
Het |
Hook1 |
T |
G |
4: 95,905,834 (GRCm39) |
I585S |
probably benign |
Het |
Ighg1 |
A |
T |
12: 113,293,349 (GRCm39) |
S114T |
|
Het |
Kmt2d |
G |
A |
15: 98,749,899 (GRCm39) |
P2598L |
unknown |
Het |
Macc1 |
A |
T |
12: 119,411,254 (GRCm39) |
H674L |
probably benign |
Het |
Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
Or2n1 |
T |
A |
17: 38,486,188 (GRCm39) |
M71K |
probably benign |
Het |
Or7e170 |
A |
G |
9: 19,795,472 (GRCm39) |
V43A |
probably benign |
Het |
Or9g3 |
A |
C |
2: 85,589,803 (GRCm39) |
L306V |
probably benign |
Het |
Pnliprp2 |
T |
A |
19: 58,763,574 (GRCm39) |
S408T |
probably benign |
Het |
Ppara |
A |
C |
15: 85,661,927 (GRCm39) |
Y56S |
probably benign |
Het |
Ppp1r1a |
A |
G |
15: 103,440,816 (GRCm39) |
C114R |
probably benign |
Het |
Pycard |
C |
T |
7: 127,592,657 (GRCm39) |
V57I |
probably damaging |
Het |
Rin3 |
T |
G |
12: 102,317,200 (GRCm39) |
Y143D |
unknown |
Het |
Slc12a7 |
A |
G |
13: 73,912,187 (GRCm39) |
|
probably benign |
Het |
Slitrk3 |
C |
T |
3: 72,957,440 (GRCm39) |
R444H |
probably damaging |
Het |
Ttf2 |
C |
T |
3: 100,857,728 (GRCm39) |
|
probably null |
Het |
Ufsp2 |
T |
A |
8: 46,433,361 (GRCm39) |
I25N |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,240,912 (GRCm39) |
T115A |
possibly damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,230 (GRCm39) |
R328* |
probably null |
Het |
Vmn2r8 |
T |
A |
5: 108,950,040 (GRCm39) |
Y269F |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,995,030 (GRCm39) |
Y118C |
probably damaging |
Het |
Zeb1 |
T |
C |
18: 5,766,611 (GRCm39) |
V374A |
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 |
|
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'- AGCCAAGAAAGGATGCTCTGC -3'
(R):5'- TCCCACATTAGTCTCTAGCAATG -3'
Sequencing Primer
(F):5'- GATGCTCTGCTAATCTCACTAACAGG -3'
(R):5'- TTAGTCTCTAGCAATGACAGTTAAAC -3'
|
Posted On |
2019-10-17 |