Incidental Mutation 'R6796:Proca1'
| ID |
533018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proca1
|
| Ensembl Gene |
ENSMUSG00000044122 |
| Gene Name |
protein interacting with cyclin A1 |
| Synonyms |
4933404M19Rik |
| MMRRC Submission |
044909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78084218-78096589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 78085754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 19
(R19L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002128]
[ENSMUST00000056241]
[ENSMUST00000060539]
[ENSMUST00000078099]
[ENSMUST00000108317]
[ENSMUST00000108322]
[ENSMUST00000150941]
[ENSMUST00000207728]
|
| AlphaFold |
B0QZF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002128
|
| SMART Domains |
Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
54 |
219 |
2.96e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056241
|
| SMART Domains |
Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
43 |
205 |
9.5e-13 |
PFAM |
|
Pfam:Miro
|
54 |
166 |
9.3e-17 |
PFAM |
|
Pfam:MMR_HSR1
|
54 |
204 |
4.4e-7 |
PFAM |
|
Pfam:Ras
|
54 |
210 |
4.8e-41 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000060539
AA Change: R19L
|
| SMART Domains |
Protein: ENSMUSP00000050319
Gene: ENSMUSG00000044122
AA Change: R19L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078099
|
| SMART Domains |
Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
92 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108317
AA Change: R19L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122
AA Change: R19L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PA2c
|
33 |
99 |
2e-12 |
BLAST |
|
SCOP:d1poc__
|
55 |
102 |
5e-4 |
SMART |
|
coiled coil region
|
179 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108322
|
| SMART Domains |
Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
54 |
219 |
2.96e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150941
|
| SMART Domains |
Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
60 |
225 |
2.96e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156435
|
| SMART Domains |
Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
167 |
4.1e-17 |
PFAM |
|
Pfam:Roc
|
6 |
122 |
4.5e-32 |
PFAM |
|
Pfam:MMR_HSR1
|
6 |
156 |
2.3e-8 |
PFAM |
|
Pfam:Ras
|
6 |
168 |
1.9e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207728
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,620,597 (GRCm39) |
V3950A |
probably damaging |
Het |
| App |
A |
G |
16: 84,917,455 (GRCm39) |
I63T |
probably damaging |
Het |
| Bpifb4 |
A |
T |
2: 153,803,467 (GRCm39) |
K381N |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,603,607 (GRCm39) |
A529T |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,446,159 (GRCm39) |
N536K |
probably damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
| E2f3 |
A |
G |
13: 30,102,568 (GRCm39) |
V231A |
possibly damaging |
Het |
| F930015N05Rik |
A |
T |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,739,830 (GRCm39) |
H47R |
possibly damaging |
Het |
| Hcar2 |
A |
G |
5: 124,003,330 (GRCm39) |
S58P |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,558 (GRCm39) |
T625A |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,734,236 (GRCm39) |
A336V |
probably damaging |
Het |
| Lin37 |
A |
T |
7: 30,256,341 (GRCm39) |
V140E |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,874,595 (GRCm39) |
I1341K |
unknown |
Het |
| Map4k5 |
T |
C |
12: 69,864,799 (GRCm39) |
I561V |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,627 (GRCm39) |
S163P |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,290,039 (GRCm39) |
T158A |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,292 (GRCm39) |
I222F |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,278 (GRCm39) |
C95R |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,331,098 (GRCm39) |
M200K |
probably benign |
Het |
| Plcd4 |
T |
C |
1: 74,601,229 (GRCm39) |
S498P |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,349,972 (GRCm39) |
Y267C |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,167,694 (GRCm39) |
I655T |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,436,380 (GRCm39) |
S61P |
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,167,398 (GRCm39) |
S1022G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,469 (GRCm39) |
H1037R |
probably damaging |
Het |
| Rpl34 |
G |
T |
3: 130,522,926 (GRCm39) |
T6K |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,771,711 (GRCm39) |
T402A |
probably benign |
Het |
| Selenow |
A |
T |
7: 15,653,996 (GRCm39) |
V52E |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,774,822 (GRCm39) |
I118L |
probably benign |
Het |
| Sis |
A |
T |
3: 72,872,951 (GRCm39) |
N62K |
probably benign |
Het |
| Sit1 |
A |
T |
4: 43,482,761 (GRCm39) |
C133S |
probably benign |
Het |
| Susd3 |
ACC |
AC |
13: 49,391,041 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,064,275 (GRCm39) |
V3236A |
probably benign |
Het |
| Taf12 |
G |
A |
4: 132,016,725 (GRCm39) |
V168I |
possibly damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,526 (GRCm39) |
R219S |
probably damaging |
Het |
| Tmc1 |
A |
T |
19: 20,776,400 (GRCm39) |
V653D |
probably damaging |
Het |
| Utp23 |
T |
A |
15: 51,741,007 (GRCm39) |
L30Q |
probably damaging |
Het |
|
| Other mutations in Proca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01806:Proca1
|
APN |
11 |
78,095,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01905:Proca1
|
APN |
11 |
78,095,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0396:Proca1
|
UTSW |
11 |
78,085,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0398:Proca1
|
UTSW |
11 |
78,096,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0734:Proca1
|
UTSW |
11 |
78,092,628 (GRCm39) |
splice site |
probably benign |
|
|
R0980:Proca1
|
UTSW |
11 |
78,095,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1899:Proca1
|
UTSW |
11 |
78,095,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1900:Proca1
|
UTSW |
11 |
78,095,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2183:Proca1
|
UTSW |
11 |
78,094,975 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2867:Proca1
|
UTSW |
11 |
78,095,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2867:Proca1
|
UTSW |
11 |
78,095,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4237:Proca1
|
UTSW |
11 |
78,095,752 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4687:Proca1
|
UTSW |
11 |
78,095,724 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5299:Proca1
|
UTSW |
11 |
78,096,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5318:Proca1
|
UTSW |
11 |
78,092,683 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5379:Proca1
|
UTSW |
11 |
78,096,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5564:Proca1
|
UTSW |
11 |
78,092,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6592:Proca1
|
UTSW |
11 |
78,095,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6894:Proca1
|
UTSW |
11 |
78,085,613 (GRCm39) |
unclassified |
probably benign |
|
|
R7423:Proca1
|
UTSW |
11 |
78,085,643 (GRCm39) |
unclassified |
probably benign |
|
|
R8110:Proca1
|
UTSW |
11 |
78,095,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8952:Proca1
|
UTSW |
11 |
78,095,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8974:Proca1
|
UTSW |
11 |
78,096,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACCCGACTGACGCTTAG -3'
(R):5'- ATTGGGCCAAGGGTTCTACC -3'
Sequencing Primer
(F):5'- TTAGACCCGGGCTGGAAGAC -3'
(R):5'- GTTCTACCGAACCCTAGCG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation