Incidental Mutation 'R4213:Dipk1b'
| ID |
319287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dipk1b
|
| Ensembl Gene |
ENSMUSG00000036186 |
| Gene Name |
divergent protein kinase domain 1B |
| Synonyms |
PIP49, B230317C12Rik, Fam69b |
| MMRRC Submission |
041040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R4213 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26518469-26526509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26525960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 298
(T298I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074240]
[ENSMUST00000174066]
|
| AlphaFold |
Q99ML4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074240
AA Change: T298I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000073860
Gene: ENSMUSG00000036186
AA Change: T298I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PIP49_N
|
22 |
180 |
2.18e-90 |
SMART |
|
Pfam:PIP49_C
|
197 |
399 |
6.4e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174066
|
| SMART Domains |
Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181621
|
| Meta Mutation Damage Score |
0.0609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
97% (38/39) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
C |
8: 123,617,765 (GRCm39) |
V2029G |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,178,988 (GRCm39) |
V291E |
probably benign |
Het |
| Cad |
G |
A |
5: 31,229,688 (GRCm39) |
V1390I |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,599,462 (GRCm39) |
D281E |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,008 (GRCm39) |
T655I |
probably damaging |
Het |
| Cep350 |
C |
G |
1: 155,811,707 (GRCm39) |
G411A |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,261 (GRCm39) |
F210L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,430,865 (GRCm39) |
M1679K |
unknown |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,525,225 (GRCm39) |
F527V |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,731,571 (GRCm39) |
L731P |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,989,581 (GRCm39) |
T343A |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,011,106 (GRCm39) |
L72P |
probably damaging |
Het |
| Gpr137c |
G |
A |
14: 45,483,965 (GRCm39) |
E231K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,183,139 (GRCm39) |
N1112S |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kplce |
G |
A |
3: 92,776,434 (GRCm39) |
P83L |
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,506 (GRCm39) |
T87P |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,465 (GRCm39) |
Y169C |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,824,553 (GRCm39) |
A510S |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,038 (GRCm39) |
E1275K |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,629,418 (GRCm39) |
G92V |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,018 (GRCm39) |
T185A |
probably damaging |
Het |
| Yjefn3 |
G |
T |
8: 70,343,540 (GRCm39) |
H50Q |
probably benign |
Het |
| Zswim1 |
T |
C |
2: 164,667,705 (GRCm39) |
V319A |
probably benign |
Het |
|
| Other mutations in Dipk1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01927:Dipk1b
|
APN |
2 |
26,526,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0669:Dipk1b
|
UTSW |
2 |
26,524,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1912:Dipk1b
|
UTSW |
2 |
26,522,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Dipk1b
|
UTSW |
2 |
26,525,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2760:Dipk1b
|
UTSW |
2 |
26,525,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3712:Dipk1b
|
UTSW |
2 |
26,522,650 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3953:Dipk1b
|
UTSW |
2 |
26,525,579 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3956:Dipk1b
|
UTSW |
2 |
26,525,579 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4190:Dipk1b
|
UTSW |
2 |
26,526,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Dipk1b
|
UTSW |
2 |
26,526,260 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5618:Dipk1b
|
UTSW |
2 |
26,524,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6198:Dipk1b
|
UTSW |
2 |
26,525,710 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6769:Dipk1b
|
UTSW |
2 |
26,524,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6771:Dipk1b
|
UTSW |
2 |
26,524,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8934:Dipk1b
|
UTSW |
2 |
26,524,866 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9126:Dipk1b
|
UTSW |
2 |
26,525,989 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATCTTACTGAGGGCATCCC -3'
(R):5'- TTAGCAGCTCGCACACCTTG -3'
Sequencing Primer
(F):5'- CCTCATGGTTCCTGGCATGG -3'
(R):5'- ATGAGGTCACCCTTGCACTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation