Incidental Mutation 'R3051:R3hcc1l'
| ID |
264968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hcc1l
|
| Ensembl Gene |
ENSMUSG00000025184 |
| Gene Name |
R3H domain and coiled-coil containing 1 like |
| Synonyms |
1700036B12Rik, D19Ertd386e |
| MMRRC Submission |
040560-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 42551064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 20
(Y20*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026188]
[ENSMUST00000160107]
[ENSMUST00000160893]
|
| AlphaFold |
Q8BJM3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026188
AA Change: Y20*
|
| SMART Domains |
Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
AA Change: Y20*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
163 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
|
coiled coil region
|
734 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160107
|
| SMART Domains |
Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
154 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160893
AA Change: Y20*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162829
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,933,816 (GRCm39) |
L436P |
probably damaging |
Het |
| Axin1 |
A |
G |
17: 26,409,099 (GRCm39) |
T700A |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,268,188 (GRCm39) |
M100L |
probably benign |
Het |
| Ceacam20 |
T |
A |
7: 19,710,110 (GRCm39) |
V378E |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,410,006 (GRCm39) |
R45H |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Ddr2 |
T |
C |
1: 169,816,024 (GRCm39) |
K561R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,853,590 (GRCm39) |
D280G |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,203,343 (GRCm39) |
E481G |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,060 (GRCm39) |
T99A |
probably benign |
Het |
| Pald1 |
G |
A |
10: 61,182,542 (GRCm39) |
Q412* |
probably null |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,797,709 (GRCm39) |
V514I |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,018,867 (GRCm39) |
Y649H |
probably damaging |
Het |
| Rbfox3 |
G |
T |
11: 118,393,714 (GRCm39) |
A37D |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,502,437 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc6a7 |
G |
A |
18: 61,142,589 (GRCm39) |
T41M |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,556 (GRCm39) |
F70S |
possibly damaging |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tktl1 |
A |
G |
X: 73,221,010 (GRCm39) |
T39A |
probably benign |
Het |
| Tmem51 |
A |
T |
4: 141,759,335 (GRCm39) |
Y138N |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,918,849 (GRCm39) |
E730K |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,316,772 (GRCm39) |
N12D |
probably benign |
Het |
|
| Other mutations in R3hcc1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:R3hcc1l
|
APN |
19 |
42,552,391 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01731:R3hcc1l
|
APN |
19 |
42,551,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01921:R3hcc1l
|
APN |
19 |
42,552,220 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01933:R3hcc1l
|
APN |
19 |
42,551,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02047:R3hcc1l
|
APN |
19 |
42,552,258 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02658:R3hcc1l
|
APN |
19 |
42,551,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02952:R3hcc1l
|
APN |
19 |
42,552,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0233:R3hcc1l
|
UTSW |
19 |
42,571,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0233:R3hcc1l
|
UTSW |
19 |
42,571,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0254:R3hcc1l
|
UTSW |
19 |
42,551,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:R3hcc1l
|
UTSW |
19 |
42,564,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:R3hcc1l
|
UTSW |
19 |
42,550,995 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0727:R3hcc1l
|
UTSW |
19 |
42,564,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:R3hcc1l
|
UTSW |
19 |
42,552,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1061:R3hcc1l
|
UTSW |
19 |
42,571,865 (GRCm39) |
nonsense |
probably null |
|
|
R1570:R3hcc1l
|
UTSW |
19 |
42,570,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:R3hcc1l
|
UTSW |
19 |
42,552,046 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2378:R3hcc1l
|
UTSW |
19 |
42,551,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:R3hcc1l
|
UTSW |
19 |
42,552,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3053:R3hcc1l
|
UTSW |
19 |
42,551,064 (GRCm39) |
nonsense |
probably null |
|
|
R4471:R3hcc1l
|
UTSW |
19 |
42,571,259 (GRCm39) |
splice site |
probably benign |
|
|
R4643:R3hcc1l
|
UTSW |
19 |
42,551,239 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4772:R3hcc1l
|
UTSW |
19 |
42,571,996 (GRCm39) |
splice site |
probably benign |
|
|
R5524:R3hcc1l
|
UTSW |
19 |
42,552,307 (GRCm39) |
nonsense |
probably null |
|
|
R5976:R3hcc1l
|
UTSW |
19 |
42,551,789 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6965:R3hcc1l
|
UTSW |
19 |
42,551,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:R3hcc1l
|
UTSW |
19 |
42,570,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7158:R3hcc1l
|
UTSW |
19 |
42,571,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:R3hcc1l
|
UTSW |
19 |
42,571,979 (GRCm39) |
nonsense |
probably null |
|
|
R7447:R3hcc1l
|
UTSW |
19 |
42,551,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7792:R3hcc1l
|
UTSW |
19 |
42,552,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8222:R3hcc1l
|
UTSW |
19 |
42,564,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:R3hcc1l
|
UTSW |
19 |
42,552,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9204:R3hcc1l
|
UTSW |
19 |
42,552,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9514:R3hcc1l
|
UTSW |
19 |
42,507,203 (GRCm39) |
unclassified |
probably benign |
|
|
R9664:R3hcc1l
|
UTSW |
19 |
42,552,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0064:R3hcc1l
|
UTSW |
19 |
42,571,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATTGACATGCCTGAATGGATTAAG -3'
(R):5'- TTCCTATCAGAATGGCCTGC -3'
Sequencing Primer
(F):5'- GTCAATGATTGCTGACAAACAAAC -3'
(R):5'- TATCAGAATGGCCTGCACCTCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation