Incidental Mutation 'R8496:Ncapd2'
| ID |
658270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncapd2
|
| Ensembl Gene |
ENSMUSG00000038252 |
| Gene Name |
non-SMC condensin I complex, subunit D2 |
| Synonyms |
2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik |
| MMRRC Submission |
067938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R8496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125147127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1198
(E1198G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000073605]
[ENSMUST00000117757]
[ENSMUST00000118875]
[ENSMUST00000182052]
[ENSMUST00000182277]
[ENSMUST00000183272]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043848
AA Change: E1198G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: E1198G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd1_N
|
75 |
240 |
1.4e-41 |
PFAM |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
949 |
N/A |
INTRINSIC |
|
Pfam:Cnd1
|
1058 |
1224 |
2.5e-65 |
PFAM |
|
low complexity region
|
1329 |
1345 |
N/A |
INTRINSIC |
|
low complexity region
|
1357 |
1369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073605
|
| SMART Domains |
Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
143 |
4.2e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117757
|
| SMART Domains |
Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
150 |
7.33e-109 |
SMART |
|
Pfam:Gp_dh_C
|
155 |
312 |
5.2e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118875
|
| SMART Domains |
Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
150 |
7.33e-109 |
SMART |
|
Pfam:Gp_dh_C
|
155 |
312 |
7.4e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182052
|
| SMART Domains |
Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
1 |
55 |
2.96e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182277
|
| SMART Domains |
Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
57 |
2.75e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183272
|
| SMART Domains |
Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
107 |
7.93e-64 |
SMART |
|
Pfam:Gp_dh_C
|
112 |
269 |
3e-76 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,120 (GRCm39) |
E335G |
probably benign |
Het |
| Afp |
C |
T |
5: 90,639,572 (GRCm39) |
S34F |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,847,807 (GRCm39) |
I639N |
probably damaging |
Het |
| Atp13a1 |
T |
G |
8: 70,250,618 (GRCm39) |
V411G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,309 (GRCm39) |
C383S |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,304,840 (GRCm39) |
I556V |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,642,089 (GRCm39) |
E322G |
probably benign |
Het |
| Cel |
T |
C |
2: 28,446,200 (GRCm39) |
D557G |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,600,634 (GRCm39) |
I996V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,453,182 (GRCm39) |
*514R |
probably null |
Het |
| Cry2 |
C |
G |
2: 92,257,284 (GRCm39) |
R95P |
probably damaging |
Het |
| Ctse |
T |
A |
1: 131,592,118 (GRCm39) |
I148N |
probably damaging |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dsn1 |
C |
T |
2: 156,839,640 (GRCm39) |
V254M |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,377 (GRCm39) |
D755G |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,761 (GRCm39) |
H104L |
possibly damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,117 (GRCm39) |
T65A |
possibly damaging |
Het |
| Gtse1 |
A |
G |
15: 85,746,283 (GRCm39) |
D33G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,943,325 (GRCm39) |
Y455H |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,228 (GRCm39) |
C150S |
probably damaging |
Het |
| Kctd11 |
T |
G |
11: 69,770,877 (GRCm39) |
T54P |
probably damaging |
Het |
| Kif1b |
C |
A |
4: 149,277,068 (GRCm39) |
G56* |
probably null |
Het |
| Kifap3 |
T |
A |
1: 163,656,866 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
T |
13: 100,349,247 (GRCm39) |
H1360Q |
probably benign |
Het |
| Nova1 |
T |
A |
12: 46,760,325 (GRCm39) |
K90* |
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,396 (GRCm39) |
L179H |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,388 (GRCm39) |
H193Q |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,877 (GRCm39) |
V26A |
probably benign |
Het |
| Or1s2 |
A |
G |
19: 13,758,384 (GRCm39) |
N136S |
probably benign |
Het |
| Palm |
C |
T |
10: 79,642,485 (GRCm39) |
T6I |
probably benign |
Het |
| Parp10 |
T |
A |
15: 76,117,749 (GRCm39) |
D879V |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,971,181 (GRCm39) |
V497A |
unknown |
Het |
| Pparg |
A |
G |
6: 115,440,112 (GRCm39) |
I199V |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,660 (GRCm39) |
I180N |
probably damaging |
Het |
| Prdx5 |
A |
T |
19: 6,885,542 (GRCm39) |
C37* |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,797 (GRCm39) |
T236S |
probably damaging |
Het |
| Rab5b |
G |
A |
10: 128,518,776 (GRCm39) |
Q119* |
probably null |
Het |
| Rdh19 |
T |
A |
10: 127,695,469 (GRCm39) |
W228R |
probably damaging |
Het |
| Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,383 (GRCm39) |
V321A |
probably damaging |
Het |
| Slc6a5 |
T |
A |
7: 49,585,960 (GRCm39) |
V426D |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,178,896 (GRCm39) |
E4526V |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,268,441 (GRCm39) |
K2083E |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,241,547 (GRCm39) |
I2143F |
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,170 (GRCm39) |
D90G |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,462,010 (GRCm39) |
Y569C |
probably damaging |
Het |
| Zfp326 |
T |
G |
5: 106,036,451 (GRCm39) |
S121A |
probably damaging |
Het |
|
| Other mutations in Ncapd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Ncapd2
|
APN |
6 |
125,150,388 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00960:Ncapd2
|
APN |
6 |
125,150,811 (GRCm39) |
missense |
probably benign |
|
|
IGL01307:Ncapd2
|
APN |
6 |
125,145,582 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01612:Ncapd2
|
APN |
6 |
125,154,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01903:Ncapd2
|
APN |
6 |
125,154,423 (GRCm39) |
missense |
probably benign |
|
|
IGL01987:Ncapd2
|
APN |
6 |
125,162,804 (GRCm39) |
splice site |
probably benign |
|
|
IGL01998:Ncapd2
|
APN |
6 |
125,146,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Ncapd2
|
APN |
6 |
125,150,078 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02329:Ncapd2
|
APN |
6 |
125,166,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02550:Ncapd2
|
APN |
6 |
125,154,410 (GRCm39) |
missense |
probably benign |
|
|
IGL02662:Ncapd2
|
APN |
6 |
125,153,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02817:Ncapd2
|
APN |
6 |
125,147,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03121:Ncapd2
|
APN |
6 |
125,150,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03206:Ncapd2
|
APN |
6 |
125,148,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
FR4548:Ncapd2
|
UTSW |
6 |
125,150,559 (GRCm39) |
critical splice donor site |
probably benign |
|
|
PIT4305001:Ncapd2
|
UTSW |
6 |
125,160,990 (GRCm39) |
nonsense |
probably null |
|
|
R0486:Ncapd2
|
UTSW |
6 |
125,160,990 (GRCm39) |
nonsense |
probably null |
|
|
R0635:Ncapd2
|
UTSW |
6 |
125,149,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0699:Ncapd2
|
UTSW |
6 |
125,146,843 (GRCm39) |
missense |
probably benign |
|
|
R0746:Ncapd2
|
UTSW |
6 |
125,151,227 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0893:Ncapd2
|
UTSW |
6 |
125,150,445 (GRCm39) |
missense |
probably benign |
|
|
R1385:Ncapd2
|
UTSW |
6 |
125,150,078 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1513:Ncapd2
|
UTSW |
6 |
125,147,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Ncapd2
|
UTSW |
6 |
125,162,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Ncapd2
|
UTSW |
6 |
125,145,553 (GRCm39) |
missense |
probably null |
0.39 |
|
R2030:Ncapd2
|
UTSW |
6 |
125,153,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2035:Ncapd2
|
UTSW |
6 |
125,161,491 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2359:Ncapd2
|
UTSW |
6 |
125,156,379 (GRCm39) |
unclassified |
probably benign |
|
|
R3951:Ncapd2
|
UTSW |
6 |
125,163,747 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3952:Ncapd2
|
UTSW |
6 |
125,163,747 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3953:Ncapd2
|
UTSW |
6 |
125,147,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4623:Ncapd2
|
UTSW |
6 |
125,150,572 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4630:Ncapd2
|
UTSW |
6 |
125,156,196 (GRCm39) |
splice site |
probably null |
|
|
R4667:Ncapd2
|
UTSW |
6 |
125,161,481 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4769:Ncapd2
|
UTSW |
6 |
125,162,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Ncapd2
|
UTSW |
6 |
125,146,803 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5130:Ncapd2
|
UTSW |
6 |
125,146,887 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5465:Ncapd2
|
UTSW |
6 |
125,153,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5806:Ncapd2
|
UTSW |
6 |
125,158,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5823:Ncapd2
|
UTSW |
6 |
125,145,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5888:Ncapd2
|
UTSW |
6 |
125,164,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Ncapd2
|
UTSW |
6 |
125,145,832 (GRCm39) |
missense |
probably benign |
|
|
R6198:Ncapd2
|
UTSW |
6 |
125,156,286 (GRCm39) |
nonsense |
probably null |
|
|
R6406:Ncapd2
|
UTSW |
6 |
125,150,841 (GRCm39) |
missense |
probably benign |
|
|
R6652:Ncapd2
|
UTSW |
6 |
125,163,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6959:Ncapd2
|
UTSW |
6 |
125,145,883 (GRCm39) |
missense |
probably benign |
|
|
R6977:Ncapd2
|
UTSW |
6 |
125,148,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Ncapd2
|
UTSW |
6 |
125,153,699 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7143:Ncapd2
|
UTSW |
6 |
125,156,524 (GRCm39) |
missense |
probably benign |
|
|
R7144:Ncapd2
|
UTSW |
6 |
125,153,633 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7186:Ncapd2
|
UTSW |
6 |
125,163,119 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7203:Ncapd2
|
UTSW |
6 |
125,161,291 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7384:Ncapd2
|
UTSW |
6 |
125,150,364 (GRCm39) |
missense |
probably benign |
|
|
R8039:Ncapd2
|
UTSW |
6 |
125,157,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8047:Ncapd2
|
UTSW |
6 |
125,166,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8048:Ncapd2
|
UTSW |
6 |
125,156,661 (GRCm39) |
nonsense |
probably null |
|
|
R8056:Ncapd2
|
UTSW |
6 |
125,148,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Ncapd2
|
UTSW |
6 |
125,145,945 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8489:Ncapd2
|
UTSW |
6 |
125,150,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8755:Ncapd2
|
UTSW |
6 |
125,148,817 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8776:Ncapd2
|
UTSW |
6 |
125,154,476 (GRCm39) |
missense |
probably benign |
|
|
R8776-TAIL:Ncapd2
|
UTSW |
6 |
125,154,476 (GRCm39) |
missense |
probably benign |
|
|
R9015:Ncapd2
|
UTSW |
6 |
125,145,285 (GRCm39) |
unclassified |
probably benign |
|
|
R9042:Ncapd2
|
UTSW |
6 |
125,156,301 (GRCm39) |
missense |
probably benign |
|
|
R9358:Ncapd2
|
UTSW |
6 |
125,163,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9437:Ncapd2
|
UTSW |
6 |
125,153,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF045:Ncapd2
|
UTSW |
6 |
125,156,199 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCTTCTGGAGACCTCG -3'
(R):5'- GCCATGCAAAGAACTCTCTTC -3'
Sequencing Primer
(F):5'- CATACAGTAGGCTAGGTCTCGGTAC -3'
(R):5'- TCTCTTCTAAAGCAAGGACAGAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation