Incidental Mutation 'R6852:Relch'
ID |
534994 |
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 |
045023-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R6852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105681320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1184
(L1184P)
|
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 damaging
Transcript: ENSMUST00000039173
AA Change: L1208P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039178 Gene: ENSMUSG00000026319 AA Change: L1208P
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: L1208P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083926 Gene: ENSMUSG00000026319 AA Change: L1208P
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 damaging
Transcript: ENSMUST00000190501
AA Change: L1184P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141162 Gene: ENSMUSG00000026319 AA Change: L1184P
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,770,930 (GRCm39) |
Q40* |
probably null |
Het |
1700034E13Rik |
T |
C |
18: 52,796,705 (GRCm39) |
V81A |
probably damaging |
Het |
A630089N07Rik |
A |
G |
16: 97,866,855 (GRCm39) |
I369T |
probably benign |
Het |
Aatk |
T |
A |
11: 119,901,294 (GRCm39) |
Q977L |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,928,844 (GRCm39) |
Q144H |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,401,753 (GRCm39) |
F416L |
probably benign |
Het |
Anks1b |
A |
G |
10: 90,096,516 (GRCm39) |
E425G |
probably damaging |
Het |
Atm |
A |
G |
9: 53,393,730 (GRCm39) |
S1737P |
possibly damaging |
Het |
Bsph1 |
T |
A |
7: 13,204,255 (GRCm39) |
|
probably null |
Het |
Cabyr |
C |
T |
18: 12,887,154 (GRCm39) |
P262S |
probably benign |
Het |
Cdc14a |
G |
A |
3: 116,122,325 (GRCm39) |
P214L |
possibly damaging |
Het |
Cep128 |
C |
A |
12: 91,333,116 (GRCm39) |
|
probably null |
Het |
Cfh |
T |
A |
1: 140,075,487 (GRCm39) |
R250S |
probably damaging |
Het |
Ddx39a |
T |
C |
8: 84,449,646 (GRCm39) |
I417T |
probably benign |
Het |
Dgka |
T |
A |
10: 128,558,408 (GRCm39) |
K548M |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Elapor1 |
T |
C |
3: 108,389,654 (GRCm39) |
E203G |
probably damaging |
Het |
Epg5 |
C |
T |
18: 78,056,106 (GRCm39) |
T1760I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,488,635 (GRCm39) |
V3472A |
possibly damaging |
Het |
Fbxo48 |
T |
A |
11: 16,903,402 (GRCm39) |
N9K |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,560 (GRCm39) |
I1084N |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,466,727 (GRCm39) |
H833L |
probably damaging |
Het |
Foxn1 |
G |
T |
11: 78,251,786 (GRCm39) |
Q482K |
probably benign |
Het |
Fstl5 |
A |
G |
3: 76,615,162 (GRCm39) |
D741G |
probably damaging |
Het |
Gmip |
C |
T |
8: 70,270,641 (GRCm39) |
Q55* |
probably null |
Het |
H2-T5 |
T |
C |
17: 36,478,965 (GRCm39) |
N95D |
possibly damaging |
Het |
Hapln2 |
G |
A |
3: 87,929,958 (GRCm39) |
T306M |
possibly damaging |
Het |
Kat6a |
T |
A |
8: 23,428,676 (GRCm39) |
S1344T |
probably benign |
Het |
Kctd1 |
C |
T |
18: 15,119,401 (GRCm39) |
D705N |
possibly damaging |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
T |
5: 139,701,548 (GRCm39) |
A482D |
possibly damaging |
Het |
Mindy3 |
T |
A |
2: 12,424,063 (GRCm39) |
M1L |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,136,867 (GRCm39) |
E352G |
probably damaging |
Het |
Muc5ac |
G |
A |
7: 141,370,644 (GRCm39) |
V3219I |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,143,794 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,234,071 (GRCm39) |
I377T |
probably damaging |
Het |
Oog4 |
C |
A |
4: 143,165,679 (GRCm39) |
C156F |
possibly damaging |
Het |
Or5m9 |
A |
T |
2: 85,876,948 (GRCm39) |
I41F |
probably benign |
Het |
Pcyt1a |
T |
C |
16: 32,288,938 (GRCm39) |
S260P |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,843,711 (GRCm39) |
F1749L |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,353,525 (GRCm39) |
D647G |
probably benign |
Het |
Raver2 |
T |
C |
4: 100,990,787 (GRCm39) |
S387P |
probably benign |
Het |
Rgs19 |
A |
G |
2: 181,330,941 (GRCm39) |
S231P |
possibly damaging |
Het |
Rpl8 |
G |
T |
15: 76,790,149 (GRCm39) |
R198L |
probably benign |
Het |
Sacs |
T |
A |
14: 61,416,737 (GRCm39) |
S77T |
possibly damaging |
Het |
Samd14 |
G |
A |
11: 94,912,280 (GRCm39) |
G219D |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,331,431 (GRCm39) |
V195M |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,221,113 (GRCm39) |
V453I |
possibly damaging |
Het |
Slc46a3 |
A |
T |
5: 147,822,970 (GRCm39) |
C291S |
probably damaging |
Het |
Smarcal1 |
A |
G |
1: 72,630,332 (GRCm39) |
T129A |
possibly damaging |
Het |
Sorl1 |
T |
A |
9: 41,935,694 (GRCm39) |
R1041W |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
Srgap3 |
T |
C |
6: 112,793,622 (GRCm39) |
D118G |
probably damaging |
Het |
Tas2r117 |
T |
A |
6: 132,779,892 (GRCm39) |
V10D |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,500,206 (GRCm39) |
K1111E |
probably benign |
Het |
Tor1aip1 |
A |
T |
1: 155,911,566 (GRCm39) |
L139Q |
probably damaging |
Het |
Trbv23 |
T |
C |
6: 41,193,181 (GRCm39) |
V23A |
probably damaging |
Het |
Ttll3 |
AAGTA |
AAGTATAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
Ttll3 |
GGCAAAG |
GGCAAAGCAAAG |
6: 113,376,116 (GRCm39) |
|
probably null |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vmn1r42 |
T |
G |
6: 89,821,769 (GRCm39) |
T267P |
possibly damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,340,441 (GRCm39) |
V11F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,361 (GRCm39) |
M192V |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,811 (GRCm39) |
V663A |
probably damaging |
Het |
Zdhhc1 |
C |
T |
8: 106,203,704 (GRCm39) |
G156S |
possibly damaging |
Het |
Zfp318 |
AGAAG |
AGAAGAGGAAG |
17: 46,723,464 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
GAAGAA |
GAAGAAAAAGAA |
17: 46,723,459 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
AAGAAG |
AAGAAGTAGAAG |
17: 46,723,460 (GRCm39) |
|
probably benign |
Het |
Zfp560 |
A |
G |
9: 20,259,339 (GRCm39) |
C508R |
probably damaging |
Het |
Zfp654 |
G |
A |
16: 64,606,961 (GRCm39) |
L414F |
probably damaging |
Het |
Zfp872 |
A |
T |
9: 22,111,355 (GRCm39) |
Y278F |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,483,515 (GRCm39) |
S385G |
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 |
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'- AACTGCTGCTGCTTTTCATG -3'
(R):5'- GCAGTGCAAATATCTTTGGAGG -3'
Sequencing Primer
(F):5'- CTCAGTAGGTTAAGGCACTGC -3'
(R):5'- CAGTGCAAATATCTTTGGAGGTTAGG -3'
|
Posted On |
2018-09-12 |