Incidental Mutation 'R1085:Dipk1c'
| ID |
85004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dipk1c
|
| Ensembl Gene |
ENSMUSG00000047992 |
| Gene Name |
divergent protein kinase domain 1C |
| Synonyms |
Fam69c, B230399E16Rik |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84737361-84758561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84757509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 198
(I198V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052501]
|
| AlphaFold |
Q8BQT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052501
AA Change: I198V
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057697
Gene: ENSMUSG00000047992
AA Change: I198V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIP49_C
|
38 |
230 |
1.4e-61 |
PFAM |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158785
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159800
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Dipk1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02017:Dipk1c
|
APN |
18 |
84,754,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Dipk1c
|
UTSW |
18 |
84,738,488 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1682:Dipk1c
|
UTSW |
18 |
84,754,988 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2076:Dipk1c
|
UTSW |
18 |
84,755,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Dipk1c
|
UTSW |
18 |
84,748,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5079:Dipk1c
|
UTSW |
18 |
84,748,702 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5366:Dipk1c
|
UTSW |
18 |
84,748,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Dipk1c
|
UTSW |
18 |
84,748,549 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6942:Dipk1c
|
UTSW |
18 |
84,748,549 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7855:Dipk1c
|
UTSW |
18 |
84,748,171 (GRCm39) |
start gained |
probably benign |
|
|
R8801:Dipk1c
|
UTSW |
18 |
84,757,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGATGCCCTTTTCGTGTCAGAG -3'
(R):5'- TCCAGAACACACTGGATGAGGCTG -3'
Sequencing Primer
(F):5'- aggagtgggtgagtggg -3'
(R):5'- TGGATGAGGCTGTCCAGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation