Incidental Mutation 'R6959:Ncapd2'
| ID |
541648 |
| 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 |
045069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R6959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125145883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1293
(F1293L)
|
| 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 benign
Transcript: ENSMUST00000043848
AA Change: F1293L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: F1293L
| 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: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
| Validation Efficiency |
94% (61/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
G |
A |
11: 70,507,485 (GRCm39) |
G177R |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,927,249 (GRCm39) |
T292A |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,870,467 (GRCm39) |
D173E |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,021,338 (GRCm39) |
V2154G |
probably damaging |
Het |
| Btnl2 |
G |
A |
17: 34,582,333 (GRCm39) |
V300M |
possibly damaging |
Het |
| Calcrl |
A |
T |
2: 84,200,428 (GRCm39) |
N117K |
possibly damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,052 (GRCm39) |
S83P |
probably damaging |
Het |
| Ccdc196 |
A |
G |
12: 78,249,070 (GRCm39) |
K139E |
probably damaging |
Het |
| Ccl22 |
A |
T |
8: 95,473,528 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
T |
A |
16: 44,610,539 (GRCm39) |
S216T |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,278,906 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,674,260 (GRCm39) |
I47T |
probably damaging |
Het |
| Chodl |
G |
A |
16: 78,743,572 (GRCm39) |
V220I |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,479,807 (GRCm39) |
T225A |
probably benign |
Het |
| Duoxa1 |
T |
C |
2: 122,134,318 (GRCm39) |
S267G |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,341,507 (GRCm39) |
S164N |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,181 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Galnt5 |
A |
G |
2: 57,889,231 (GRCm39) |
D277G |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,612,006 (GRCm39) |
I212T |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,038,213 (GRCm39) |
|
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,553,883 (GRCm39) |
D243G |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,297,710 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,246,600 (GRCm39) |
Q1096L |
probably benign |
Het |
| Hycc1 |
T |
C |
5: 24,196,754 (GRCm39) |
I45V |
possibly damaging |
Het |
| Idh3b |
A |
G |
2: 130,123,447 (GRCm39) |
V181A |
probably damaging |
Het |
| Igf2bp3 |
T |
C |
6: 49,094,082 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,577,929 (GRCm39) |
*382Q |
probably null |
Het |
| Impg2 |
A |
C |
16: 56,088,693 (GRCm39) |
H1073P |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,854,134 (GRCm39) |
E639G |
unknown |
Het |
| Kcne4 |
A |
G |
1: 78,795,603 (GRCm39) |
M84V |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,957,713 (GRCm39) |
F1004I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 16,222,820 (GRCm39) |
I2040V |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,878 (GRCm39) |
D110G |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 82,009,076 (GRCm39) |
V1237A |
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,495 (GRCm39) |
|
probably null |
Het |
| Nf1 |
A |
G |
11: 79,440,294 (GRCm39) |
T280A |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,928,411 (GRCm39) |
A6085E |
probably damaging |
Het |
| Or51b6b |
T |
A |
7: 103,310,050 (GRCm39) |
I136F |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,993 (GRCm39) |
A1381T |
probably benign |
Het |
| Pramel41 |
T |
A |
5: 94,594,891 (GRCm39) |
N250K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,621 (GRCm39) |
V1462A |
probably damaging |
Het |
| Rbx1 |
T |
A |
15: 81,355,163 (GRCm39) |
C56* |
probably null |
Het |
| Reln |
A |
G |
5: 22,181,562 (GRCm39) |
S1774P |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
| Sarnp |
T |
C |
10: 128,684,137 (GRCm39) |
V111A |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,513,636 (GRCm39) |
Q345K |
probably benign |
Het |
| Slc18b1 |
A |
G |
10: 23,701,942 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
T |
A |
9: 37,152,630 (GRCm39) |
T64S |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,395,727 (GRCm39) |
D710G |
possibly damaging |
Het |
| Srp72 |
T |
A |
5: 77,142,070 (GRCm39) |
Y375N |
possibly damaging |
Het |
| Tmco4 |
T |
A |
4: 138,737,810 (GRCm39) |
V135D |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,802,955 (GRCm39) |
D335G |
probably damaging |
Het |
| Tsfm |
T |
C |
10: 126,858,778 (GRCm39) |
M196V |
probably benign |
Het |
| Tspan10 |
T |
A |
11: 120,335,522 (GRCm39) |
C211S |
probably damaging |
Het |
| Ttc21b |
A |
T |
2: 66,061,656 (GRCm39) |
M498K |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,704,928 (GRCm39) |
|
probably null |
Het |
| Ttll1 |
G |
T |
15: 83,386,397 (GRCm39) |
Y69* |
probably null |
Het |
| Usp28 |
T |
A |
9: 48,912,842 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,400 (GRCm39) |
S739P |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,533,555 (GRCm39) |
F64I |
probably damaging |
Het |
| Ywhaq |
A |
G |
12: 21,446,281 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,150,409 (GRCm39) |
S459P |
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 |
|
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 |
|
R8496:Ncapd2
|
UTSW |
6 |
125,147,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CTACAGAAGTCAGAGGCTGTAG -3'
(R):5'- CCTGTGGTGGCATCAGTTAG -3'
Sequencing Primer
(F):5'- GCTGTAGCCTTGAGACTAGAAAAG -3'
(R):5'- GGCATCAGTTAGTTGGAATCAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation