Incidental Mutation 'R4630:Ncapd2'
| ID |
349111 |
| 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 |
041895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4630 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 125156196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043848
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
| 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 |
noncoding transcript
Transcript: ENSMUST00000186561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
T |
13: 119,624,622 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,009,294 (GRCm39) |
Q240P |
probably benign |
Het |
| Bckdha |
A |
T |
7: 25,330,884 (GRCm39) |
I44N |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,286,867 (GRCm39) |
Y32H |
probably damaging |
Het |
| Catip |
A |
G |
1: 74,408,072 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,409,477 (GRCm39) |
L602P |
probably damaging |
Het |
| Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
| Comp |
A |
T |
8: 70,827,032 (GRCm39) |
I58F |
possibly damaging |
Het |
| Crygs |
T |
C |
16: 22,624,268 (GRCm39) |
E113G |
possibly damaging |
Het |
| Dnmt3b |
C |
T |
2: 153,512,235 (GRCm39) |
R319* |
probably null |
Het |
| Eif3a |
A |
G |
19: 60,758,366 (GRCm39) |
I804T |
unknown |
Het |
| Eif3a |
A |
T |
19: 60,766,424 (GRCm39) |
H301Q |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,184,478 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,348,990 (GRCm39) |
G41* |
probably null |
Het |
| Gm10384 |
A |
G |
15: 36,872,017 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11627 |
T |
A |
11: 102,469,657 (GRCm39) |
|
probably benign |
Het |
| Gpr183 |
A |
T |
14: 122,192,261 (GRCm39) |
Y87N |
probably damaging |
Het |
| Gpr183 |
G |
C |
14: 122,192,262 (GRCm39) |
Y86* |
probably null |
Het |
| Gpr26 |
T |
C |
7: 131,568,709 (GRCm39) |
V18A |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,996 (GRCm39) |
|
probably null |
Het |
| Hint2 |
C |
T |
4: 43,656,396 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,927,899 (GRCm39) |
D837E |
probably damaging |
Het |
| Jmjd1c |
C |
A |
10: 66,993,753 (GRCm39) |
S78* |
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lalba |
T |
C |
15: 98,380,549 (GRCm39) |
M2V |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,101,295 (GRCm39) |
D1929E |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,432 (GRCm39) |
K878R |
possibly damaging |
Het |
| Mboat4 |
T |
C |
8: 34,591,108 (GRCm39) |
S182P |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,721 (GRCm39) |
T1556S |
unknown |
Het |
| Myo1g |
T |
C |
11: 6,469,047 (GRCm39) |
Y85C |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,744,257 (GRCm39) |
D96G |
possibly damaging |
Het |
| Or10a48 |
T |
C |
7: 108,424,802 (GRCm39) |
M135V |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,822 (GRCm39) |
L250P |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,350 (GRCm39) |
L21P |
probably damaging |
Het |
| Pacs1 |
C |
T |
19: 5,206,384 (GRCm39) |
|
probably null |
Het |
| Pgap4 |
C |
G |
4: 49,586,254 (GRCm39) |
V305L |
probably benign |
Het |
| Pgm5 |
C |
A |
19: 24,812,110 (GRCm39) |
G141* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
| Pld4 |
T |
A |
12: 112,731,498 (GRCm39) |
V217D |
probably damaging |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,278 (GRCm39) |
S126P |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,710,915 (GRCm39) |
E285G |
probably benign |
Het |
| Pradc1 |
T |
A |
6: 85,424,275 (GRCm39) |
M24L |
possibly damaging |
Het |
| Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
| Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,129,163 (GRCm39) |
K540* |
probably null |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,388,114 (GRCm39) |
L124P |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,297,646 (GRCm39) |
D208G |
probably damaging |
Het |
| Sult4a1 |
T |
C |
15: 83,989,779 (GRCm39) |
T8A |
possibly damaging |
Het |
| Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,477 (GRCm39) |
E90G |
probably benign |
Het |
| Tmem123 |
T |
C |
9: 7,791,393 (GRCm39) |
L164P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,038,368 (GRCm39) |
A1490D |
probably damaging |
Het |
| Ttc16 |
T |
C |
2: 32,665,389 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
T |
A |
1: 57,427,686 (GRCm39) |
Q306L |
probably damaging |
Het |
| Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Zar1 |
A |
G |
5: 72,738,249 (GRCm39) |
V51A |
probably benign |
Het |
| Zbtb38 |
T |
G |
9: 96,570,904 (GRCm39) |
N60T |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,961,045 (GRCm39) |
S417P |
probably damaging |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,901,423 (GRCm39) |
Q451* |
probably null |
Het |
| Zfp64 |
T |
C |
2: 168,768,463 (GRCm39) |
N383S |
possibly damaging |
Het |
| Zfp687 |
A |
T |
3: 94,919,799 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACGCATTTGGTCAGACATTACTAC -3'
(R):5'- CACATTCAGCTGCAGCACTAG -3'
Sequencing Primer
(F):5'- ACACCTGTCACTTCCCGCAG -3'
(R):5'- TGCAGCACTAGACCCGGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation