Incidental Mutation 'R9307:Relch'
| ID |
705244 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R9307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105615077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 272
(Y272F)
|
| 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 benign
Transcript: ENSMUST00000039173
AA Change: Y272F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: Y272F
| 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: Y272F
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: Y272F
| 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: ENSMUST00000186807
AA Change: Y272F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319
AA Change: Y272F
| 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: Y248F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: Y248F
| 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: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,771,183 (GRCm39) |
D124A |
probably benign |
Het |
| Acd |
T |
C |
8: 106,425,514 (GRCm39) |
D273G |
probably damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam15 |
T |
C |
3: 89,254,790 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adam2 |
A |
T |
14: 66,287,921 (GRCm39) |
C392S |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,576,131 (GRCm39) |
N304K |
probably damaging |
Het |
| Adam34l |
A |
C |
8: 44,079,304 (GRCm39) |
F307V |
probably benign |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,882 (GRCm39) |
F28L |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,992,993 (GRCm39) |
S920P |
probably benign |
Het |
| Btc |
A |
G |
5: 91,550,515 (GRCm39) |
|
probably null |
Het |
| Chchd2 |
A |
T |
5: 129,916,054 (GRCm39) |
V12E |
probably benign |
Het |
| Chia1 |
A |
G |
3: 106,035,991 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
A |
T |
3: 106,111,382 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
G |
5: 76,364,671 (GRCm39) |
F815L |
unknown |
Het |
| Cmtr2 |
C |
T |
8: 110,949,712 (GRCm39) |
T674M |
probably benign |
Het |
| Cnbd1 |
A |
C |
4: 18,887,647 (GRCm39) |
I289R |
probably damaging |
Het |
| Cog2 |
A |
T |
8: 125,253,837 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
T |
C |
10: 61,703,248 (GRCm39) |
I454V |
unknown |
Het |
| Cyct |
T |
A |
2: 76,184,457 (GRCm39) |
Y98F |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,227,236 (GRCm39) |
E297G |
possibly damaging |
Het |
| Dgka |
T |
C |
10: 128,567,046 (GRCm39) |
H271R |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,300 (GRCm39) |
I1250F |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,686,155 (GRCm39) |
L130P |
probably damaging |
Het |
| Dpyd |
G |
A |
3: 119,108,560 (GRCm39) |
V868I |
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,535,076 (GRCm39) |
D113E |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,932,719 (GRCm39) |
K1405E |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,342,856 (GRCm39) |
C8R |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,609,044 (GRCm39) |
M971V |
probably benign |
Het |
| Glyatl3 |
C |
T |
17: 41,223,553 (GRCm39) |
|
probably null |
Het |
| Grip1 |
A |
T |
10: 119,821,454 (GRCm39) |
H373L |
probably benign |
Het |
| Ins1 |
T |
C |
19: 52,253,258 (GRCm39) |
L66P |
possibly damaging |
Het |
| Kif21b |
A |
T |
1: 136,101,800 (GRCm39) |
I1616L |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,128,024 (GRCm39) |
M637T |
unknown |
Het |
| Mc2r |
A |
T |
18: 68,540,636 (GRCm39) |
M219K |
probably benign |
Het |
| Mcpt1 |
A |
G |
14: 56,256,867 (GRCm39) |
D135G |
possibly damaging |
Het |
| Mturn |
T |
C |
6: 54,676,541 (GRCm39) |
|
probably null |
Het |
| Mutyh |
T |
A |
4: 116,674,074 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
G |
11: 66,984,397 (GRCm39) |
D1078G |
possibly damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,451 (GRCm39) |
I112V |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,153,874 (GRCm39) |
K198E |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,306,534 (GRCm39) |
N1211K |
possibly damaging |
Het |
| Piezo1 |
G |
A |
8: 123,213,832 (GRCm39) |
P1711S |
|
Het |
| Pkd1 |
T |
A |
17: 24,769,451 (GRCm39) |
L72Q |
possibly damaging |
Het |
| Pramel20 |
C |
A |
4: 143,299,314 (GRCm39) |
L326I |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,049 (GRCm39) |
D607G |
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,344,372 (GRCm39) |
*254R |
probably null |
Het |
| Rasal3 |
TTGGACCTGAGTGGA |
TTGGA |
17: 32,612,502 (GRCm39) |
782 |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,693,149 (GRCm39) |
P410S |
probably benign |
Het |
| Sec14l2 |
A |
G |
11: 4,068,665 (GRCm39) |
V5A |
probably benign |
Het |
| Slc12a3 |
A |
C |
8: 95,061,625 (GRCm39) |
I291L |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,083,662 (GRCm39) |
F372L |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,035,978 (GRCm39) |
W1095R |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,095 (GRCm39) |
T254A |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,237 (GRCm39) |
F259S |
probably damaging |
Het |
| Tns2 |
C |
A |
15: 102,018,996 (GRCm39) |
L396I |
probably damaging |
Het |
| Tom1l1 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
11: 90,540,648 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,747,033 (GRCm39) |
D96G |
probably damaging |
Het |
| Trgv3 |
A |
G |
13: 19,427,441 (GRCm39) |
E108G |
probably damaging |
Het |
| Trpv6 |
A |
G |
6: 41,602,378 (GRCm39) |
V336A |
probably benign |
Het |
| Usp45 |
A |
T |
4: 21,824,998 (GRCm39) |
L583F |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,554,475 (GRCm39) |
D1538G |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,072 (GRCm39) |
H206L |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,733 (GRCm39) |
H449Q |
probably benign |
Het |
| Zfp653 |
G |
A |
9: 21,969,321 (GRCm39) |
S315F |
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 |
|
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 |
|
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'- TCAGGTGGGTGATTGACAAC -3'
(R):5'- GGGCTATACAGTTACTATCAGGC -3'
Sequencing Primer
(F):5'- GTGGGTGATTGACAACACCAGTTATC -3'
(R):5'- AGGTTTGTGAGCCAATTGAATAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation