Incidental Mutation 'R4376:Pfn4'
| ID |
325108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfn4
|
| Ensembl Gene |
ENSMUSG00000020639 |
| Gene Name |
profilin family, member 4 |
| Synonyms |
2900024P18Rik |
| MMRRC Submission |
041120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4819022-4828813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4820182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 10
(D10E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020967]
[ENSMUST00000053458]
[ENSMUST00000178879]
[ENSMUST00000218199]
[ENSMUST00000218575]
[ENSMUST00000219438]
[ENSMUST00000219503]
[ENSMUST00000219898]
|
| AlphaFold |
Q9D6I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020967
AA Change: D10E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: D10E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
4 |
124 |
5.4e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053458
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178879
AA Change: D10E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: D10E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
5 |
124 |
9.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218575
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219438
AA Change: D10E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219503
AA Change: D10E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219898
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,314,238 (GRCm39) |
S683P |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,344,794 (GRCm39) |
T53M |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Eaf2 |
A |
G |
16: 36,620,998 (GRCm39) |
L184P |
unknown |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,373,317 (GRCm39) |
S228C |
probably damaging |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,305,972 (GRCm39) |
R1175L |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,871 (GRCm39) |
S67P |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,826,195 (GRCm39) |
N266I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pank1 |
C |
T |
19: 34,855,104 (GRCm39) |
V4I |
probably benign |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,693,891 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,816,448 (GRCm39) |
V1240A |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,568,433 (GRCm39) |
C372* |
probably null |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Pfn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Pfn4
|
APN |
12 |
4,825,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01522:Pfn4
|
APN |
12 |
4,820,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01726:Pfn4
|
APN |
12 |
4,824,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Pfn4
|
APN |
12 |
4,825,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2082:Pfn4
|
UTSW |
12 |
4,825,439 (GRCm39) |
splice site |
probably null |
|
|
R2201:Pfn4
|
UTSW |
12 |
4,824,382 (GRCm39) |
splice site |
probably null |
|
|
R4373:Pfn4
|
UTSW |
12 |
4,820,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4377:Pfn4
|
UTSW |
12 |
4,820,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4692:Pfn4
|
UTSW |
12 |
4,824,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Pfn4
|
UTSW |
12 |
4,825,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Pfn4
|
UTSW |
12 |
4,824,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8125:Pfn4
|
UTSW |
12 |
4,825,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Pfn4
|
UTSW |
12 |
4,825,456 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9300:Pfn4
|
UTSW |
12 |
4,825,442 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCCTGGATGATGGACC -3'
(R):5'- CCACAGAAACTATCGTACTTTGTG -3'
Sequencing Primer
(F):5'- GGATGATGGACCACTATTTTCACTCG -3'
(R):5'- CTGACATTGTTGAAACATGTTCGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation