Incidental Mutation 'R8819:Relch'
ID |
672904 |
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 |
068652-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R8819 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.3%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,547,576 (GRCm39) |
L266P |
probably damaging |
Het |
Als2cl |
T |
C |
9: 110,714,855 (GRCm39) |
F125L |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,228,165 (GRCm39) |
I406V |
probably benign |
Het |
Bag5 |
T |
C |
12: 111,677,709 (GRCm39) |
N38S |
probably benign |
Het |
Clk2 |
T |
A |
3: 89,082,730 (GRCm39) |
M392K |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 95,980,037 (GRCm39) |
|
probably null |
Het |
Cps1 |
T |
A |
1: 67,267,439 (GRCm39) |
N1402K |
possibly damaging |
Het |
Cracd |
CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG |
C |
5: 77,004,793 (GRCm39) |
|
probably benign |
Het |
Cyp2u1 |
T |
C |
3: 131,092,016 (GRCm39) |
H168R |
probably damaging |
Het |
Dapl1 |
T |
C |
2: 59,335,056 (GRCm39) |
L70P |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,805,483 (GRCm39) |
K836* |
probably null |
Het |
Dnmbp |
C |
T |
19: 43,889,854 (GRCm39) |
V638M |
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,994 (GRCm39) |
L847P |
probably benign |
Het |
Eef1b2 |
T |
C |
1: 63,217,268 (GRCm39) |
|
probably benign |
Het |
Eif1ad8 |
C |
T |
12: 87,563,910 (GRCm39) |
R82* |
probably null |
Het |
Fbll1 |
T |
C |
11: 35,688,802 (GRCm39) |
K154E |
probably benign |
Het |
Fbxw17 |
A |
T |
13: 50,587,351 (GRCm39) |
K437M |
possibly damaging |
Het |
Fktn |
T |
C |
4: 53,735,001 (GRCm39) |
V174A |
possibly damaging |
Het |
Frem1 |
C |
A |
4: 82,821,754 (GRCm39) |
S2118I |
probably damaging |
Het |
Gabrb3 |
T |
C |
7: 57,442,329 (GRCm39) |
S212P |
probably damaging |
Het |
Gimap9 |
A |
G |
6: 48,654,821 (GRCm39) |
D136G |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,759,648 (GRCm39) |
I55V |
probably benign |
Het |
Huwe1 |
A |
G |
X: 150,669,993 (GRCm39) |
K1482R |
probably benign |
Het |
Ift46 |
C |
T |
9: 44,701,819 (GRCm39) |
T283I |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,956,757 (GRCm39) |
Q27* |
probably null |
Het |
Lmcd1 |
T |
A |
6: 112,306,770 (GRCm39) |
I314N |
probably damaging |
Het |
Lypd9 |
T |
G |
11: 58,337,129 (GRCm39) |
S115R |
probably damaging |
Het |
Mctp2 |
C |
A |
7: 71,879,081 (GRCm39) |
V259L |
probably benign |
Het |
Midn |
T |
G |
10: 79,990,234 (GRCm39) |
S302A |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,106,291 (GRCm39) |
V797A |
|
Het |
Npm2 |
A |
G |
14: 70,885,768 (GRCm39) |
S146P |
probably damaging |
Het |
Npr1 |
G |
A |
3: 90,372,201 (GRCm39) |
R204C |
probably damaging |
Het |
Or2w2 |
G |
A |
13: 21,757,999 (GRCm39) |
S209L |
probably benign |
Het |
Or52n3 |
T |
A |
7: 104,530,862 (GRCm39) |
V316D |
possibly damaging |
Het |
Or6e1 |
C |
T |
14: 54,520,070 (GRCm39) |
G94D |
probably benign |
Het |
Paip2b |
A |
C |
6: 83,791,738 (GRCm39) |
M48R |
probably damaging |
Het |
Pcsk2 |
T |
A |
2: 143,642,990 (GRCm39) |
H422Q |
probably damaging |
Het |
Pdzph1 |
G |
C |
17: 59,187,715 (GRCm39) |
Y1168* |
probably null |
Het |
Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
Prelp |
T |
C |
1: 133,842,878 (GRCm39) |
N89S |
probably damaging |
Het |
Rapgef3 |
T |
C |
15: 97,646,538 (GRCm39) |
N799S |
probably benign |
Het |
Rel |
C |
T |
11: 23,695,626 (GRCm39) |
R219H |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,028,771 (GRCm39) |
S732P |
probably benign |
Het |
Rock1 |
A |
G |
18: 10,070,626 (GRCm39) |
F1196S |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,690,069 (GRCm39) |
V1180A |
probably benign |
Het |
Ryr3 |
G |
A |
2: 112,466,137 (GRCm39) |
R4795W |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,645,586 (GRCm39) |
I123V |
probably benign |
Het |
Sema4b |
G |
C |
7: 79,870,248 (GRCm39) |
E475D |
probably damaging |
Het |
Serinc2 |
C |
A |
4: 130,149,172 (GRCm39) |
M343I |
probably damaging |
Het |
Serinc5 |
G |
T |
13: 92,844,544 (GRCm39) |
V429F |
probably benign |
Het |
Tnfsf10 |
G |
A |
3: 27,389,451 (GRCm39) |
V171M |
probably benign |
Het |
Zfp27 |
T |
C |
7: 29,594,013 (GRCm39) |
K651E |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,383 (GRCm39) |
I525T |
possibly 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 |
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'- CCGTTGCAGGCAGATTATGG -3'
(R):5'- GCCTATGGTAAAAGCCTTTGATAG -3'
Sequencing Primer
(F):5'- GGAGACAGTCATTTACATGTGCCC -3'
(R):5'- AAGCCTTTGATAGATTTACTGTGGC -3'
|
Posted On |
2021-04-30 |