Incidental Mutation 'R5187:Relch'
| ID |
397934 |
| 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 |
042766-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R5187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 105646534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 620
(L620*)
|
| 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 null
Transcript: ENSMUST00000039173
AA Change: L644*
|
| SMART Domains |
Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: L644*
| 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 null
Transcript: ENSMUST00000086721
AA Change: L644*
|
| SMART Domains |
Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: L644*
| 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 |
noncoding transcript
Transcript: ENSMUST00000188969
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190501
AA Change: L620*
|
| SMART Domains |
Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: L620*
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,965,992 (GRCm39) |
L628S |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,564,297 (GRCm39) |
R201* |
probably null |
Het |
| Adsl |
A |
G |
15: 80,833,106 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,823,397 (GRCm39) |
V483A |
possibly damaging |
Het |
| Calm1 |
T |
C |
12: 100,166,472 (GRCm39) |
S19P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,040,641 (GRCm39) |
N313S |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,286,935 (GRCm39) |
A64S |
possibly damaging |
Het |
| Ccdc167 |
C |
A |
17: 29,924,485 (GRCm39) |
A39S |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,359,936 (GRCm39) |
L247P |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,854,361 (GRCm39) |
E138G |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,741,693 (GRCm39) |
C81Y |
probably benign |
Het |
| Clvs1 |
T |
C |
4: 9,281,865 (GRCm39) |
L103P |
possibly damaging |
Het |
| Cntrob |
G |
T |
11: 69,212,717 (GRCm39) |
Q106K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,936,643 (GRCm39) |
L14P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,909,001 (GRCm39) |
V26A |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,489,857 (GRCm39) |
I184T |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,427,222 (GRCm39) |
W766R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,272,318 (GRCm39) |
V1041I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,464,050 (GRCm39) |
N38K |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,043,015 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
G |
5: 73,243,943 (GRCm39) |
L1209P |
possibly damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,799 (GRCm39) |
E76G |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,599,519 (GRCm39) |
C169R |
probably damaging |
Het |
| Hmgn1 |
A |
T |
16: 95,923,627 (GRCm39) |
|
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,582,001 (GRCm39) |
Y443* |
probably null |
Het |
| Macf1 |
T |
A |
4: 123,365,882 (GRCm39) |
M1395L |
probably benign |
Het |
| Mllt10 |
C |
T |
2: 18,213,585 (GRCm39) |
Q997* |
probably null |
Het |
| Mocos |
T |
A |
18: 24,825,611 (GRCm39) |
V722E |
probably damaging |
Het |
| Moxd2 |
A |
T |
6: 40,856,271 (GRCm39) |
L534M |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,035,568 (GRCm39) |
M368V |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,440 (GRCm39) |
G2383D |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,834,745 (GRCm39) |
I935T |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,560 (GRCm39) |
L43H |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,579,580 (GRCm39) |
L433Q |
possibly damaging |
Het |
| Nsl1 |
A |
G |
1: 190,807,387 (GRCm39) |
N189D |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,578,540 (GRCm39) |
I77V |
probably damaging |
Het |
| Or51e1 |
A |
T |
7: 102,358,868 (GRCm39) |
H134L |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,594 (GRCm39) |
D323G |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,279,448 (GRCm39) |
S2957P |
possibly damaging |
Het |
| Prdm9 |
T |
G |
17: 15,783,155 (GRCm39) |
E42D |
probably damaging |
Het |
| Rasal1 |
C |
A |
5: 120,813,460 (GRCm39) |
H611Q |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,971,301 (GRCm39) |
W260R |
probably damaging |
Het |
| Rpain |
A |
G |
11: 70,864,658 (GRCm39) |
D115G |
probably benign |
Het |
| Rpl3l |
T |
C |
17: 24,951,429 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,787,338 (GRCm39) |
I1012F |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,631 (GRCm39) |
V480A |
probably benign |
Het |
| Slc35a3 |
T |
A |
3: 116,474,794 (GRCm39) |
K199N |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,200,322 (GRCm39) |
Y121C |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,291,514 (GRCm39) |
|
probably null |
Het |
| Sort1 |
T |
A |
3: 108,231,992 (GRCm39) |
I172N |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,122,518 (GRCm39) |
H328N |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,263,770 (GRCm39) |
D504G |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,573,954 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Tfap2e |
T |
C |
4: 126,628,434 (GRCm39) |
D174G |
probably benign |
Het |
| Tmem42 |
T |
C |
9: 122,851,232 (GRCm39) |
V65A |
probably damaging |
Het |
| Vmn1r225 |
C |
G |
17: 20,723,177 (GRCm39) |
T206R |
probably damaging |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,571 (GRCm39) |
F65S |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,333,208 (GRCm39) |
L14Q |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,711 (GRCm39) |
S2651P |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,959 (GRCm39) |
L162F |
probably damaging |
Het |
| Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
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 |
|
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 |
|
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'- AATGCAATTGTTCAAGGAGGC -3'
(R):5'- TGACTGCTTAGATACACCACCTC -3'
Sequencing Primer
(F):5'- CTCTAAATCCAGTTGTAGGGGATCC -3'
(R):5'- GCTTAGATACACCACCTCACTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation