Incidental Mutation 'R5520:R3hcc1'
| ID |
431518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hcc1
|
| Ensembl Gene |
ENSMUSG00000034194 |
| Gene Name |
R3H domain and coiled-coil containing 1 |
| Synonyms |
1700020M16Rik |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
69934756-69945033 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 69936057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 437
(K437*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022660]
[ENSMUST00000100420]
[ENSMUST00000118374]
[ENSMUST00000121142]
[ENSMUST00000216152]
|
| AlphaFold |
Q8BSI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022660
|
| SMART Domains |
Protein: ENSMUSP00000022660
Gene: ENSMUSG00000034205
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SR
|
61 |
162 |
4.4e-53 |
SMART |
|
SR
|
189 |
305 |
8.41e-18 |
SMART |
|
SR
|
329 |
428 |
2.29e-51 |
SMART |
|
SR
|
438 |
546 |
4.6e-33 |
SMART |
|
Pfam:Lysyl_oxidase
|
550 |
753 |
1.9e-107 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100420
|
| SMART Domains |
Protein: ENSMUSP00000097987
Gene: ENSMUSG00000034205
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SR
|
61 |
162 |
4.4e-53 |
SMART |
|
SR
|
189 |
305 |
8.41e-18 |
SMART |
|
SR
|
329 |
428 |
2.29e-51 |
SMART |
|
SR
|
438 |
546 |
4.6e-33 |
SMART |
|
Pfam:Lysyl_oxidase
|
550 |
750 |
1.1e-102 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118374
AA Change: K437*
|
| SMART Domains |
Protein: ENSMUSP00000113450
Gene: ENSMUSG00000034194
AA Change: K437*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000121142
AA Change: K437*
|
| SMART Domains |
Protein: ENSMUSP00000113898
Gene: ENSMUSG00000034194
AA Change: K437*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138326
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194548
AA Change: K251*
|
| SMART Domains |
Protein: ENSMUSP00000141254
Gene: ENSMUSG00000034194
AA Change: K251*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216152
AA Change: K437*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly damaging |
Het |
|
| Other mutations in R3hcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:R3hcc1
|
APN |
14 |
69,937,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02089:R3hcc1
|
APN |
14 |
69,937,475 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3737:R3hcc1
|
UTSW |
14 |
69,935,042 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4041:R3hcc1
|
UTSW |
14 |
69,944,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:R3hcc1
|
UTSW |
14 |
69,936,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5058:R3hcc1
|
UTSW |
14 |
69,941,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:R3hcc1
|
UTSW |
14 |
69,935,053 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6910:R3hcc1
|
UTSW |
14 |
69,935,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:R3hcc1
|
UTSW |
14 |
69,941,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:R3hcc1
|
UTSW |
14 |
69,943,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7392:R3hcc1
|
UTSW |
14 |
69,943,329 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7792:R3hcc1
|
UTSW |
14 |
69,942,957 (GRCm39) |
missense |
probably benign |
|
|
R7975:R3hcc1
|
UTSW |
14 |
69,944,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:R3hcc1
|
UTSW |
14 |
69,942,890 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:R3hcc1
|
UTSW |
14 |
69,942,776 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAAGAAGGTGTGCGCTGG -3'
(R):5'- TTCAGCCTTTACCGAGCTAGGG -3'
Sequencing Primer
(F):5'- GAGCAAACATATATGGTAGCTGAC -3'
(R):5'- CTTTACCGAGCTAGGGCAGAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation