Incidental Mutation 'R4760:Relch'
ID |
356771 |
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 |
041974-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R4760 (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 105649030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 723
(M723K)
|
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: M747K
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000039178 Gene: ENSMUSG00000026319 AA Change: M747K
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: M747K
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000083926 Gene: ENSMUSG00000026319 AA Change: M747K
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 benign
Transcript: ENSMUST00000190501
AA Change: M723K
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141162 Gene: ENSMUSG00000026319 AA Change: M723K
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 |
0.0636 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
A |
G |
6: 60,379,086 (GRCm39) |
|
noncoding transcript |
Het |
Abcc2 |
A |
T |
19: 43,798,920 (GRCm39) |
Y512F |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,443,312 (GRCm39) |
I51N |
probably damaging |
Het |
Adhfe1 |
A |
G |
1: 9,633,748 (GRCm39) |
Y332C |
probably damaging |
Het |
Ambn |
C |
T |
5: 88,615,566 (GRCm39) |
L317F |
probably damaging |
Het |
Amn1 |
T |
C |
6: 149,086,611 (GRCm39) |
Y17C |
probably benign |
Het |
Apoa5 |
T |
C |
9: 46,181,593 (GRCm39) |
V223A |
probably damaging |
Het |
Best3 |
A |
T |
10: 116,860,699 (GRCm39) |
H653L |
probably benign |
Het |
Btnl2 |
C |
A |
17: 34,582,169 (GRCm39) |
S245Y |
probably damaging |
Het |
Camk1d |
A |
G |
2: 5,366,867 (GRCm39) |
L116P |
probably damaging |
Het |
Catsperg2 |
T |
A |
7: 29,405,060 (GRCm39) |
D698V |
probably damaging |
Het |
Cd33 |
T |
C |
7: 43,178,919 (GRCm39) |
T307A |
probably benign |
Het |
Cdk8 |
C |
T |
5: 146,229,476 (GRCm39) |
S230L |
probably benign |
Het |
Cfap69 |
C |
T |
5: 5,696,939 (GRCm39) |
C119Y |
probably damaging |
Het |
Chat |
T |
C |
14: 32,175,694 (GRCm39) |
N122S |
probably benign |
Het |
Col20a1 |
A |
T |
2: 180,626,196 (GRCm39) |
|
probably benign |
Het |
Cyp2j9 |
A |
T |
4: 96,457,028 (GRCm39) |
L481Q |
probably damaging |
Het |
Dab1 |
A |
C |
4: 104,589,342 (GRCm39) |
S550R |
probably damaging |
Het |
Dlgap2 |
A |
C |
8: 14,823,380 (GRCm39) |
Q533P |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,811,629 (GRCm39) |
Q31L |
possibly damaging |
Het |
Ets2 |
G |
A |
16: 95,520,087 (GRCm39) |
V438M |
probably damaging |
Het |
Eva1c |
G |
A |
16: 90,701,138 (GRCm39) |
D258N |
probably benign |
Het |
Fastkd2 |
A |
G |
1: 63,785,045 (GRCm39) |
H477R |
probably benign |
Het |
Fga |
T |
G |
3: 82,938,821 (GRCm39) |
S399A |
probably benign |
Het |
Fmo4 |
T |
A |
1: 162,637,396 (GRCm39) |
E32V |
probably damaging |
Het |
Gm7204 |
T |
A |
16: 48,039,051 (GRCm39) |
|
noncoding transcript |
Het |
Gpi-ps |
G |
A |
8: 5,690,473 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
A |
G |
12: 108,286,336 (GRCm39) |
I548V |
probably damaging |
Het |
Hsfy2 |
T |
C |
1: 56,676,349 (GRCm39) |
T63A |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,922,352 (GRCm39) |
V1254A |
possibly damaging |
Het |
Ighv8-4 |
A |
T |
12: 114,987,667 (GRCm39) |
D110E |
probably damaging |
Het |
Igkv14-130 |
T |
C |
6: 67,768,446 (GRCm39) |
S101P |
probably benign |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Ipo5 |
T |
C |
14: 121,179,054 (GRCm39) |
V779A |
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,326,593 (GRCm39) |
T105I |
probably benign |
Het |
Kalrn |
T |
C |
16: 34,018,857 (GRCm39) |
M670V |
probably damaging |
Het |
Kdm8 |
T |
A |
7: 125,054,431 (GRCm39) |
|
probably null |
Het |
Kics2 |
T |
C |
10: 121,575,912 (GRCm39) |
V11A |
probably damaging |
Het |
L3hypdh |
T |
C |
12: 72,124,016 (GRCm39) |
I281V |
probably benign |
Het |
Lins1 |
T |
G |
7: 66,364,435 (GRCm39) |
|
probably benign |
Het |
Map4k5 |
T |
A |
12: 69,871,372 (GRCm39) |
I517L |
possibly damaging |
Het |
Marchf2 |
G |
T |
17: 33,928,890 (GRCm39) |
T2K |
probably damaging |
Het |
Mlkl |
C |
G |
8: 112,046,348 (GRCm39) |
|
probably null |
Het |
Mllt1 |
A |
G |
17: 57,209,630 (GRCm39) |
M160T |
probably benign |
Het |
Mmp15 |
G |
A |
8: 96,094,824 (GRCm39) |
A233T |
possibly damaging |
Het |
Moxd2 |
C |
A |
6: 40,868,537 (GRCm39) |
T23N |
probably benign |
Het |
Nop53 |
C |
A |
7: 15,676,812 (GRCm39) |
K100N |
probably benign |
Het |
Nrg1 |
C |
A |
8: 32,408,228 (GRCm39) |
E2* |
probably null |
Het |
Or52u1 |
T |
A |
7: 104,237,696 (GRCm39) |
H228Q |
probably benign |
Het |
Pank4 |
A |
G |
4: 155,059,091 (GRCm39) |
D408G |
possibly damaging |
Het |
Pcdhb10 |
T |
C |
18: 37,544,995 (GRCm39) |
W24R |
probably benign |
Het |
Pcm1 |
C |
T |
8: 41,740,775 (GRCm39) |
T968I |
probably damaging |
Het |
Pkib |
G |
T |
10: 57,584,246 (GRCm39) |
M19I |
probably benign |
Het |
Ppy |
A |
G |
11: 101,991,345 (GRCm39) |
|
probably null |
Het |
Pramel21 |
G |
A |
4: 143,343,801 (GRCm39) |
R367K |
probably benign |
Het |
Prdx3 |
A |
C |
19: 60,861,621 (GRCm39) |
C39W |
possibly damaging |
Het |
Qrfpr |
T |
G |
3: 36,276,073 (GRCm39) |
N106H |
probably benign |
Het |
Rai14 |
G |
A |
15: 10,575,776 (GRCm39) |
T394M |
possibly damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,188,669 (GRCm39) |
L1371Q |
probably benign |
Het |
Rbm12 |
A |
G |
2: 155,939,048 (GRCm39) |
L408P |
probably damaging |
Het |
Rdx |
T |
C |
9: 51,977,174 (GRCm39) |
I141T |
probably benign |
Het |
Reep1 |
T |
A |
6: 71,684,985 (GRCm39) |
V11E |
possibly damaging |
Het |
Sall4 |
A |
G |
2: 168,592,347 (GRCm39) |
S936P |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,102,065 (GRCm39) |
M403T |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc35g2 |
T |
G |
9: 100,435,549 (GRCm39) |
I41L |
probably benign |
Het |
Slc39a12 |
G |
A |
2: 14,405,134 (GRCm39) |
S242N |
probably benign |
Het |
Slc9a2 |
T |
A |
1: 40,801,076 (GRCm39) |
D535E |
probably damaging |
Het |
Spata31d1a |
G |
T |
13: 59,849,459 (GRCm39) |
P890T |
probably damaging |
Het |
Sync |
A |
G |
4: 129,187,232 (GRCm39) |
Q88R |
probably benign |
Het |
Tdrp |
A |
G |
8: 14,024,527 (GRCm39) |
|
probably benign |
Het |
Tg |
G |
T |
15: 66,565,168 (GRCm39) |
C1170F |
probably damaging |
Het |
Tnks |
A |
T |
8: 35,318,937 (GRCm39) |
D781E |
probably benign |
Het |
Tnp2 |
T |
A |
16: 10,606,207 (GRCm39) |
T87S |
possibly damaging |
Het |
Tpp2 |
T |
C |
1: 44,010,875 (GRCm39) |
V554A |
probably benign |
Het |
Traf3ip2 |
T |
C |
10: 39,521,735 (GRCm39) |
I431T |
probably damaging |
Het |
Trav9d-4 |
A |
T |
14: 53,221,258 (GRCm39) |
H84L |
probably damaging |
Het |
Vmn2r42 |
T |
A |
7: 8,187,276 (GRCm39) |
Y782F |
probably damaging |
Het |
Vwf |
T |
C |
6: 125,547,567 (GRCm39) |
S231P |
probably damaging |
Het |
Wdr83os |
A |
G |
8: 85,808,496 (GRCm39) |
S83G |
probably damaging |
Het |
Wdr91 |
T |
A |
6: 34,885,234 (GRCm39) |
Q109L |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,818,864 (GRCm39) |
C148R |
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 |
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 |
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'- AAGATTCTGGTATGTCTACAGTGC -3'
(R):5'- CAACTCTTTGGGAAGCTAAATGG -3'
Sequencing Primer
(F):5'- GGTATGTCTACAGTGCCTTCTTGC -3'
(R):5'- GGGAAGCTAAATGGGTAATATTCTAC -3'
|
Posted On |
2015-11-11 |