Incidental Mutation 'R7209:Relch'
ID |
560913 |
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 |
045338-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R7209 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105678082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 1136
(P1136T)
|
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: P1136T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039178 Gene: ENSMUSG00000026319 AA Change: P1136T
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: P1136T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083926 Gene: ENSMUSG00000026319 AA Change: P1136T
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: P1112T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141162 Gene: ENSMUSG00000026319 AA Change: P1112T
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: 98.8%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
A |
G |
14: 68,767,268 (GRCm39) |
Y61H |
probably damaging |
Het |
Adgrb1 |
T |
G |
15: 74,441,797 (GRCm39) |
V966G |
possibly damaging |
Het |
Adh5 |
G |
A |
3: 138,148,909 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
T |
C |
6: 34,333,207 (GRCm39) |
V28A |
probably damaging |
Het |
Apbb1 |
T |
A |
7: 105,215,292 (GRCm39) |
I450F |
probably damaging |
Het |
Arhgap23 |
C |
T |
11: 97,366,911 (GRCm39) |
T1064I |
probably damaging |
Het |
Arhgap23 |
G |
C |
11: 97,383,273 (GRCm39) |
|
probably null |
Het |
Atg4b |
A |
G |
1: 93,702,955 (GRCm39) |
I128M |
probably damaging |
Het |
Baat |
A |
T |
4: 49,503,065 (GRCm39) |
I19N |
probably damaging |
Het |
Bspry |
T |
G |
4: 62,404,852 (GRCm39) |
I216S |
possibly damaging |
Het |
Commd9 |
T |
A |
2: 101,725,483 (GRCm39) |
S19T |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,851,032 (GRCm39) |
C145R |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,677,649 (GRCm39) |
L447P |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,519,389 (GRCm39) |
M333T |
possibly damaging |
Het |
Dhx9 |
T |
C |
1: 153,340,369 (GRCm39) |
T710A |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,459,371 (GRCm39) |
V4530A |
possibly damaging |
Het |
Dohh |
T |
A |
10: 81,221,874 (GRCm39) |
H89Q |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,566,733 (GRCm39) |
N1171K |
probably benign |
Het |
Dscam |
T |
C |
16: 96,451,544 (GRCm39) |
|
probably null |
Het |
Entpd5 |
T |
A |
12: 84,443,702 (GRCm39) |
S14C |
probably benign |
Het |
Eqtn |
G |
A |
4: 94,813,806 (GRCm39) |
S125F |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
Fgf18 |
A |
T |
11: 33,084,315 (GRCm39) |
D46E |
probably benign |
Het |
Foxa1 |
T |
A |
12: 57,590,077 (GRCm39) |
M48L |
probably benign |
Het |
Gabrg1 |
C |
A |
5: 70,911,513 (GRCm39) |
C417F |
probably damaging |
Het |
Glrp1 |
T |
A |
1: 88,431,004 (GRCm39) |
Q122L |
unknown |
Het |
Gm5622 |
A |
G |
14: 51,893,363 (GRCm39) |
I97V |
possibly damaging |
Het |
Gusb |
A |
G |
5: 130,027,387 (GRCm39) |
V306A |
probably benign |
Het |
Hars1 |
A |
G |
18: 36,906,593 (GRCm39) |
S126P |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,292,314 (GRCm39) |
S356G |
possibly damaging |
Het |
Hydin |
C |
A |
8: 111,216,424 (GRCm39) |
Y1336* |
probably null |
Het |
Iftap |
T |
C |
2: 101,396,727 (GRCm39) |
*217W |
probably null |
Het |
Kin |
T |
C |
2: 10,096,564 (GRCm39) |
Y138H |
possibly damaging |
Het |
Lypd2 |
C |
T |
15: 74,604,266 (GRCm39) |
V101M |
probably benign |
Het |
Madcam1 |
A |
T |
10: 79,500,892 (GRCm39) |
T70S |
possibly damaging |
Het |
Man1a2 |
A |
G |
3: 100,554,395 (GRCm39) |
C112R |
unknown |
Het |
Mia2 |
T |
A |
12: 59,201,176 (GRCm39) |
V198E |
possibly damaging |
Het |
Mpdz |
C |
T |
4: 81,225,114 (GRCm39) |
V1438M |
possibly damaging |
Het |
Mtif2 |
G |
A |
11: 29,479,996 (GRCm39) |
V21M |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nln |
G |
A |
13: 104,209,406 (GRCm39) |
Q56* |
probably null |
Het |
Nlrp4b |
T |
C |
7: 10,444,297 (GRCm39) |
V82A |
probably benign |
Het |
Obscn |
C |
A |
11: 58,975,933 (GRCm39) |
E2065* |
probably null |
Het |
Or10g1 |
A |
G |
14: 52,647,550 (GRCm39) |
C260R |
possibly damaging |
Het |
Pilrb2 |
C |
T |
5: 137,869,126 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
C |
A |
12: 79,097,150 (GRCm39) |
D99E |
probably benign |
Het |
Polr2b |
T |
A |
5: 77,491,026 (GRCm39) |
F956I |
probably damaging |
Het |
Ppp3cc |
A |
G |
14: 70,504,947 (GRCm39) |
F20L |
probably benign |
Het |
Prmt9 |
T |
C |
8: 78,291,627 (GRCm39) |
V333A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,287,357 (GRCm39) |
S430P |
probably damaging |
Het |
Rrp12 |
A |
C |
19: 41,861,388 (GRCm39) |
V973G |
possibly damaging |
Het |
Rxfp2 |
A |
G |
5: 149,976,563 (GRCm39) |
|
probably null |
Het |
S100a6 |
G |
A |
3: 90,521,095 (GRCm39) |
A8T |
possibly damaging |
Het |
Sgsm2 |
C |
A |
11: 74,745,151 (GRCm39) |
G717V |
probably damaging |
Het |
Sipa1 |
A |
G |
19: 5,705,003 (GRCm39) |
Y531H |
probably damaging |
Het |
Slc45a1 |
A |
C |
4: 150,719,669 (GRCm39) |
|
probably null |
Het |
Spopfm3 |
A |
T |
3: 94,106,012 (GRCm39) |
Q110L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,308,948 (GRCm39) |
L743F |
probably damaging |
Het |
Taar2 |
A |
T |
10: 23,816,597 (GRCm39) |
I46F |
possibly damaging |
Het |
Tmem241 |
A |
T |
18: 12,237,229 (GRCm39) |
V69D |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,993,074 (GRCm39) |
S535G |
possibly damaging |
Het |
Trgc3 |
A |
G |
13: 19,445,334 (GRCm39) |
N94S |
probably benign |
Het |
Ttc34 |
C |
A |
4: 154,923,585 (GRCm39) |
P98Q |
probably damaging |
Het |
Ubr1 |
C |
A |
2: 120,693,246 (GRCm39) |
R1720L |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,846,478 (GRCm39) |
D1597E |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,091,883 (GRCm39) |
M1930T |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,751,576 (GRCm39) |
I603F |
not run |
Het |
Vps26b |
A |
T |
9: 26,921,288 (GRCm39) |
S304T |
probably benign |
Het |
Zfp952 |
A |
T |
17: 33,222,444 (GRCm39) |
T308S |
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 |
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'- GCTGTTTGCTGTGCCTAAGC -3'
(R):5'- TTCCTACTTTAGAGAGTTGTAGAGG -3'
Sequencing Primer
(F):5'- CTCTTCTCTGTTGGCTGAG -3'
(R):5'- CTTTAGAGAGTTGTAGAGGTTCAAAG -3'
|
Posted On |
2019-06-26 |