Incidental Mutation 'R7284:Relch'
| ID |
565842 |
| 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 |
045392-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R7284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
105591570-105682856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105662308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 942
(H942Q)
|
| 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: H942Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: H942Q
| 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: H942Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: H942Q
| 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: H918Q
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: H918Q
| 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 |
|
| Meta Mutation Damage Score |
0.1052 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,246,605 (GRCm39) |
E34* |
probably null |
Het |
| 4933421I07Rik |
C |
T |
7: 42,097,404 (GRCm39) |
R30H |
probably damaging |
Het |
| AB124611 |
C |
A |
9: 21,450,400 (GRCm39) |
Q158K |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,628,643 (GRCm39) |
L367Q |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,676,812 (GRCm39) |
K266E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,006,246 (GRCm39) |
D190E |
probably damaging |
Het |
| Angel1 |
G |
T |
12: 86,767,298 (GRCm39) |
D359E |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,846,184 (GRCm39) |
I474T |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,398,008 (GRCm39) |
|
probably null |
Het |
| Best1 |
T |
C |
19: 9,963,737 (GRCm39) |
|
probably null |
Het |
| Bhlha9 |
A |
G |
11: 76,563,492 (GRCm39) |
S40G |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,530,668 (GRCm39) |
R178C |
|
Het |
| Ccnb1ip1 |
A |
G |
14: 51,029,736 (GRCm39) |
Y109H |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,381,715 (GRCm39) |
S1763P |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,300,004 (GRCm39) |
T327A |
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,645,648 (GRCm39) |
Y889H |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,908 (GRCm39) |
Y523* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,909,662 (GRCm39) |
D4484V |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,881,302 (GRCm39) |
M2591K |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,180,672 (GRCm39) |
E1715G |
probably benign |
Het |
| Dym |
A |
G |
18: 75,252,242 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,521,453 (GRCm39) |
M439T |
probably benign |
Het |
| Folr1 |
T |
G |
7: 101,508,677 (GRCm39) |
N83H |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,904 (GRCm39) |
L656P |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,779,542 (GRCm39) |
H161R |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,472,017 (GRCm39) |
Y491H |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,883,402 (GRCm39) |
C412S |
possibly damaging |
Het |
| Hmgcr |
A |
C |
13: 96,789,173 (GRCm39) |
V716G |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,479 (GRCm39) |
D799G |
probably damaging |
Het |
| Ikbkb |
T |
C |
8: 23,158,976 (GRCm39) |
T501A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,690 (GRCm39) |
R355* |
probably null |
Het |
| Kcna7 |
T |
A |
7: 45,058,652 (GRCm39) |
I313N |
probably damaging |
Het |
| Kirrel1 |
A |
C |
3: 86,990,694 (GRCm39) |
D709E |
probably benign |
Het |
| Klb |
T |
A |
5: 65,540,821 (GRCm39) |
S971R |
probably benign |
Het |
| Krtap4-13 |
A |
T |
11: 99,700,238 (GRCm39) |
C140* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,309 (GRCm39) |
L334Q |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,059,775 (GRCm39) |
R97* |
probably null |
Het |
| Mgat5b |
T |
C |
11: 116,835,746 (GRCm39) |
S129P |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Myh9 |
G |
A |
15: 77,671,796 (GRCm39) |
R432C |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,144,902 (GRCm39) |
T236A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,804 (GRCm39) |
D2581G |
probably damaging |
Het |
| Nid1 |
T |
A |
13: 13,663,675 (GRCm39) |
M778K |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,363,548 (GRCm39) |
D209G |
probably benign |
Het |
| Nploc4 |
C |
T |
11: 120,307,196 (GRCm39) |
V181I |
possibly damaging |
Het |
| Nrcam |
A |
T |
12: 44,610,817 (GRCm39) |
I506F |
probably damaging |
Het |
| Or52w1 |
T |
A |
7: 105,017,752 (GRCm39) |
M73K |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,331 (GRCm39) |
*172Q |
probably null |
Het |
| Or6c3b |
T |
C |
10: 129,527,220 (GRCm39) |
N230S |
probably benign |
Het |
| Pask |
T |
A |
1: 93,248,391 (GRCm39) |
Q970L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,840,308 (GRCm39) |
I308T |
possibly damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,114,617 (GRCm39) |
L38Q |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,775 (GRCm39) |
T349A |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,400 (GRCm39) |
I551T |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,317 (GRCm39) |
N144S |
possibly damaging |
Het |
| Prss56 |
A |
G |
1: 87,113,123 (GRCm39) |
N179S |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,097,250 (GRCm39) |
L918P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,097 (GRCm39) |
T729I |
probably damaging |
Het |
| Rrp7a |
T |
C |
15: 83,006,071 (GRCm39) |
T60A |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,431,498 (GRCm39) |
Y299H |
probably damaging |
Het |
| Spaca3 |
G |
T |
11: 80,754,847 (GRCm39) |
R96L |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,188,081 (GRCm39) |
N495S |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,270 (GRCm39) |
N175S |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
| Tdrd12 |
C |
A |
7: 35,179,561 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,949,837 (GRCm39) |
N604S |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,055,454 (GRCm39) |
F1482L |
probably benign |
Het |
| Trhr2 |
A |
T |
8: 123,087,114 (GRCm39) |
S109T |
probably damaging |
Het |
| Trpc3 |
A |
T |
3: 36,678,562 (GRCm39) |
M841K |
probably damaging |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,347,173 (GRCm39) |
M3138K |
probably benign |
Het |
| Zdhhc4 |
G |
A |
5: 143,307,646 (GRCm39) |
T125I |
probably benign |
Het |
| Zfp239 |
T |
A |
6: 117,848,716 (GRCm39) |
C151* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,382,627 (GRCm39) |
E569K |
not run |
Het |
| Zzef1 |
T |
A |
11: 72,777,516 (GRCm39) |
D1782E |
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 |
|
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 |
|
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'- TGATAGCCTTTGACCTTTGTAACC -3'
(R):5'- TCCCACTGCTATCACTCAGG -3'
Sequencing Primer
(F):5'- CTTTGACCTTTGTAACCATGGATAC -3'
(R):5'- ACTGCTATCACTCAGGAGCTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation