Incidental Mutation 'R5878:Relch'
ID |
455634 |
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 |
044084-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R5878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105620685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 387
(S387T)
|
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: S411T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039178 Gene: ENSMUSG00000026319 AA Change: S411T
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: S411T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083926 Gene: ENSMUSG00000026319 AA Change: S411T
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
AA Change: S387T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141162 Gene: ENSMUSG00000026319 AA Change: S387T
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,385,792 (GRCm39) |
N275K |
possibly damaging |
Het |
Abhd6 |
G |
A |
14: 8,028,286 (GRCm38) |
V6I |
probably benign |
Het |
Afap1l2 |
T |
C |
19: 56,904,107 (GRCm39) |
T727A |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,506,065 (GRCm39) |
E174G |
probably benign |
Het |
Ahnak |
T |
G |
19: 8,985,706 (GRCm39) |
L2330R |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,100,186 (GRCm39) |
V129E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,712,137 (GRCm39) |
T1205A |
probably benign |
Het |
Ccdc3 |
T |
C |
2: 5,233,827 (GRCm39) |
L217P |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,800,423 (GRCm39) |
D1595G |
probably benign |
Het |
Cps1 |
G |
T |
1: 67,197,037 (GRCm39) |
|
probably null |
Het |
Fam120b |
A |
G |
17: 15,622,502 (GRCm39) |
D160G |
probably damaging |
Het |
Fezf1 |
C |
A |
6: 23,247,580 (GRCm39) |
R165L |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,225,145 (GRCm39) |
L838H |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,071,847 (GRCm39) |
G243D |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,120,867 (GRCm39) |
|
probably null |
Het |
Gm10188 |
T |
C |
1: 132,156,940 (GRCm39) |
|
probably benign |
Het |
Gm5190 |
T |
A |
12: 113,360,859 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
C |
11: 57,208,628 (GRCm39) |
|
probably null |
Het |
Hdhd5 |
A |
G |
6: 120,491,485 (GRCm39) |
L206P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,773,996 (GRCm39) |
N1149S |
probably benign |
Het |
Inca1 |
G |
A |
11: 70,586,808 (GRCm39) |
|
probably benign |
Het |
Iqch |
G |
A |
9: 63,455,272 (GRCm39) |
S175F |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
Khk |
T |
A |
5: 31,088,219 (GRCm39) |
|
probably null |
Het |
Kiz |
C |
T |
2: 146,731,521 (GRCm39) |
S337L |
probably damaging |
Het |
Lzts3 |
G |
A |
2: 130,478,459 (GRCm39) |
T213I |
probably damaging |
Het |
Mab21l2 |
T |
A |
3: 86,454,025 (GRCm39) |
D325V |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,863,856 (GRCm39) |
S336P |
probably benign |
Het |
Me3 |
T |
A |
7: 89,497,214 (GRCm39) |
L405Q |
probably benign |
Het |
Mgst2 |
A |
T |
3: 51,568,651 (GRCm39) |
|
probably benign |
Het |
Myh2 |
A |
G |
11: 67,083,330 (GRCm39) |
E1431G |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,436,181 (GRCm39) |
S781P |
probably damaging |
Het |
Nr3c2 |
A |
G |
8: 77,634,897 (GRCm39) |
|
probably null |
Het |
Or10ab5 |
A |
T |
7: 108,244,946 (GRCm39) |
L279Q |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,449 (GRCm39) |
Y134H |
probably damaging |
Het |
Or6x1 |
C |
T |
9: 40,098,867 (GRCm39) |
T152I |
probably benign |
Het |
Otop1 |
G |
T |
5: 38,435,166 (GRCm39) |
R132L |
possibly damaging |
Het |
Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
Pcdhga4 |
G |
T |
18: 37,820,739 (GRCm39) |
G763W |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,168,204 (GRCm39) |
N9S |
possibly damaging |
Het |
Pi4k2a |
T |
C |
19: 42,089,080 (GRCm39) |
I147T |
probably benign |
Het |
Polh |
T |
A |
17: 46,505,251 (GRCm39) |
T122S |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,624,984 (GRCm39) |
V96A |
possibly damaging |
Het |
Ptpn6 |
C |
A |
6: 124,705,748 (GRCm39) |
C132F |
probably damaging |
Het |
Rbm19 |
T |
A |
5: 120,270,932 (GRCm39) |
V585E |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,266,355 (GRCm39) |
P647L |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,266,649 (GRCm39) |
E72G |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,742 (GRCm39) |
H392Q |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,093 (GRCm39) |
R371Q |
possibly damaging |
Het |
Slc13a5 |
G |
A |
11: 72,144,217 (GRCm39) |
T287I |
possibly damaging |
Het |
Slc22a27 |
T |
A |
19: 7,904,122 (GRCm39) |
E5V |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,465 (GRCm39) |
V293A |
probably damaging |
Het |
Slco6d1 |
T |
A |
1: 98,391,561 (GRCm39) |
|
probably benign |
Het |
Sri |
G |
C |
5: 8,109,353 (GRCm39) |
D46H |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,800 (GRCm39) |
D207G |
possibly damaging |
Het |
Tigd4 |
T |
C |
3: 84,501,749 (GRCm39) |
M222T |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,172 (GRCm39) |
D194G |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,195,753 (GRCm39) |
V1259A |
possibly damaging |
Het |
Trdv5 |
T |
C |
14: 54,386,255 (GRCm39) |
D70G |
probably benign |
Het |
Trim52 |
T |
A |
14: 106,344,375 (GRCm39) |
M11K |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,940,772 (GRCm39) |
M882T |
probably benign |
Het |
Ybx3 |
A |
G |
6: 131,344,726 (GRCm39) |
|
probably null |
Het |
Zfand2b |
A |
G |
1: 75,147,154 (GRCm39) |
|
probably benign |
Het |
Zfp91 |
T |
A |
19: 12,747,684 (GRCm39) |
T480S |
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 |
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'- AGGAAGCTTTAGTGACTCTTGTGC -3'
(R):5'- AGAAGGTGGCAGCTCTTCTC -3'
Sequencing Primer
(F):5'- AGTGACTCTTGTGCAGAAGATCC -3'
(R):5'- AAGGTGGCAGCTCTTCTCTTTCC -3'
|
Posted On |
2017-02-10 |