Incidental Mutation 'R2408:Dipk1a'
| ID |
248093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dipk1a
|
| Ensembl Gene |
ENSMUSG00000029270 |
| Gene Name |
divergent protein kinase domain 1A |
| Synonyms |
Fam69a, 2900024C23Rik |
| MMRRC Submission |
040374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108055919-108134951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108062291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 78
(D78G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031198]
[ENSMUST00000145239]
[ENSMUST00000153172]
|
| AlphaFold |
Q9D6I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031198
AA Change: D73G
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
PIP49_N
|
19 |
177 |
1.7e-92 |
SMART |
|
Pfam:PIP49_C
|
194 |
396 |
1.9e-69 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145239
AA Change: D28G
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270
AA Change: D28G
| Domain | Start | End | E-Value | Type |
|---|
|
PIP49_N
|
1 |
132 |
1.18e-45 |
SMART |
|
Pfam:PIP49_C
|
149 |
284 |
2e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153172
AA Change: D78G
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114892
Gene: ENSMUSG00000029270
AA Change: D78G
| Domain | Start | End | E-Value | Type |
|---|
|
PIP49_N
|
24 |
87 |
1.07e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0884 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (33/34) |
| 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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
| BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
| Dusp7 |
C |
T |
9: 106,246,361 (GRCm39) |
A122V |
probably benign |
Het |
| Exd2 |
T |
G |
12: 80,531,015 (GRCm39) |
|
probably benign |
Het |
| Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
| Hnf1a |
C |
T |
5: 115,098,070 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
| Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,044,301 (GRCm39) |
M417K |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,902 (GRCm39) |
S60P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
| Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
| Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly damaging |
Het |
|
| Other mutations in Dipk1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Dipk1a
|
APN |
5 |
108,059,647 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1799:Dipk1a
|
UTSW |
5 |
108,057,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2048:Dipk1a
|
UTSW |
5 |
108,057,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2169:Dipk1a
|
UTSW |
5 |
108,057,325 (GRCm39) |
nonsense |
probably null |
|
|
R3085:Dipk1a
|
UTSW |
5 |
108,062,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Dipk1a
|
UTSW |
5 |
108,072,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Dipk1a
|
UTSW |
5 |
108,057,982 (GRCm39) |
splice site |
probably null |
|
|
R4979:Dipk1a
|
UTSW |
5 |
108,057,400 (GRCm39) |
nonsense |
probably null |
|
|
R5405:Dipk1a
|
UTSW |
5 |
108,057,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5482:Dipk1a
|
UTSW |
5 |
108,057,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Dipk1a
|
UTSW |
5 |
108,059,504 (GRCm39) |
nonsense |
probably null |
|
|
R7006:Dipk1a
|
UTSW |
5 |
108,058,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7465:Dipk1a
|
UTSW |
5 |
108,057,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8004:Dipk1a
|
UTSW |
5 |
108,057,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Dipk1a
|
UTSW |
5 |
108,057,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9239:Dipk1a
|
UTSW |
5 |
108,059,572 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9330:Dipk1a
|
UTSW |
5 |
108,059,583 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9567:Dipk1a
|
UTSW |
5 |
108,057,368 (GRCm39) |
nonsense |
probably null |
|
|
X0013:Dipk1a
|
UTSW |
5 |
108,057,713 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGCTCTTAGAAGATAGAGACAGA -3'
(R):5'- CCAAAATTCTGTGTATACCCCAG -3'
Sequencing Primer
(F):5'- TTAAGAAAATCTACAGCCACAGAGAG -3'
(R):5'- GTAAATGCAAAGCCTGAGTTCCTCTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation