Incidental Mutation 'R8056:Ncapd2'
| ID |
619376 |
| 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 |
067493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8056 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125148006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1107
(T1107M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000073605]
[ENSMUST00000117757]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043848
AA Change: T1107M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: T1107M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
C |
11: 48,910,909 (GRCm39) |
E508G |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,659,611 (GRCm39) |
L88F |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,269 (GRCm39) |
P835S |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,868 (GRCm39) |
V1616A |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,856,180 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,492,771 (GRCm39) |
V3262A |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 107,982,506 (GRCm39) |
D977G |
|
Het |
| Cic |
G |
T |
7: 24,990,366 (GRCm39) |
A1956S |
possibly damaging |
Het |
| Clip4 |
C |
A |
17: 72,110,587 (GRCm39) |
T189K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,507,220 (GRCm39) |
E279G |
|
Het |
| Col24a1 |
A |
C |
3: 145,019,925 (GRCm39) |
I99L |
possibly damaging |
Het |
| Cpne3 |
A |
G |
4: 19,532,426 (GRCm39) |
V329A |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,030 (GRCm39) |
I204V |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,485 (GRCm39) |
I107V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,763,213 (GRCm39) |
R1840G |
probably null |
Het |
| Dhx36 |
A |
T |
3: 62,396,012 (GRCm39) |
L465Q |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,116 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,799,896 (GRCm39) |
T2931A |
probably damaging |
Het |
| Fam133b |
A |
T |
5: 3,615,744 (GRCm39) |
R215S |
unknown |
Het |
| Fbh1 |
G |
A |
2: 11,748,441 (GRCm39) |
T985I |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,892,633 (GRCm39) |
D2911G |
probably damaging |
Het |
| Gm13889 |
A |
T |
2: 93,787,020 (GRCm39) |
D151E |
probably damaging |
Het |
| Gosr2 |
C |
A |
11: 103,588,530 (GRCm39) |
|
probably benign |
Het |
| Igkv8-26 |
T |
A |
6: 70,170,706 (GRCm39) |
L99H |
probably damaging |
Het |
| Inhca |
A |
G |
9: 103,143,423 (GRCm39) |
C438R |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,762 (GRCm39) |
F679L |
probably damaging |
Het |
| Kif1a |
G |
C |
1: 92,982,423 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
C |
2: 153,171,979 (GRCm39) |
R716S |
possibly damaging |
Het |
| Lilra6 |
A |
T |
7: 3,915,551 (GRCm39) |
C395S |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,647,337 (GRCm39) |
F1302L |
probably damaging |
Het |
| Map2 |
T |
G |
1: 66,454,779 (GRCm39) |
V1223G |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,357,168 (GRCm39) |
N324K |
probably damaging |
Het |
| Morc3 |
T |
A |
16: 93,642,064 (GRCm39) |
H94Q |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,720,663 (GRCm39) |
V199A |
possibly damaging |
Het |
| Msx1 |
G |
A |
5: 37,981,544 (GRCm39) |
T45I |
probably benign |
Het |
| Myh7 |
G |
A |
14: 55,210,776 (GRCm39) |
Q1714* |
probably null |
Het |
| Narf |
T |
C |
11: 121,136,170 (GRCm39) |
V182A |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,619,359 (GRCm39) |
|
probably null |
Het |
| Neurog1 |
G |
T |
13: 56,399,223 (GRCm39) |
P175T |
probably damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,085,112 (GRCm39) |
T156A |
probably damaging |
Het |
| Or1ad1 |
T |
A |
11: 50,876,368 (GRCm39) |
V280E |
probably damaging |
Het |
| Or2a20 |
A |
T |
6: 43,193,978 (GRCm39) |
I44F |
probably damaging |
Het |
| Or6c3 |
G |
A |
10: 129,309,061 (GRCm39) |
A167T |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,277,594 (GRCm39) |
E194G |
probably benign |
Het |
| Pga5 |
A |
C |
19: 10,654,161 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
G |
T |
8: 71,225,011 (GRCm39) |
P151T |
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,031,264 (GRCm39) |
C10R |
probably benign |
Het |
| Plxdc1 |
T |
A |
11: 97,869,343 (GRCm39) |
R82W |
probably damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,895 (GRCm39) |
A54T |
probably benign |
Het |
| Rab31 |
T |
C |
17: 66,024,503 (GRCm39) |
I59V |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,321 (GRCm39) |
M251V |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rfc1 |
A |
C |
5: 65,451,436 (GRCm39) |
|
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,679 (GRCm39) |
I137T |
probably damaging |
Het |
| Rnf216 |
T |
C |
5: 142,978,616 (GRCm39) |
M841V |
probably benign |
Het |
| Scaf11 |
C |
A |
15: 96,312,698 (GRCm39) |
E1448* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,315,435 (GRCm39) |
L388P |
unknown |
Het |
| Serpina1b |
A |
T |
12: 103,784,137 (GRCm39) |
|
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,573,010 (GRCm39) |
I262T |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,887 (GRCm39) |
G586E |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,352 (GRCm39) |
G562E |
probably damaging |
Het |
| Slc8b1 |
T |
A |
5: 120,658,682 (GRCm39) |
L126Q |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,759,589 (GRCm39) |
Y2086H |
unknown |
Het |
| Spmip10 |
A |
G |
18: 56,727,763 (GRCm39) |
N79S |
|
Het |
| Taf1c |
A |
T |
8: 120,330,202 (GRCm39) |
D47E |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 119,991,678 (GRCm39) |
M250L |
probably benign |
Het |
| Tekt3 |
T |
C |
11: 62,974,785 (GRCm39) |
|
probably null |
Het |
| Topors |
T |
C |
4: 40,262,221 (GRCm39) |
I354M |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,574 (GRCm39) |
G1309V |
unknown |
Het |
| Ttyh1 |
C |
T |
7: 4,127,622 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,897,909 (GRCm39) |
I237T |
probably benign |
Het |
| Vmn1r197 |
T |
A |
13: 22,512,388 (GRCm39) |
V103D |
probably damaging |
Het |
| Zfp184 |
T |
C |
13: 22,143,008 (GRCm39) |
F238S |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,681,032 (GRCm39) |
F970L |
possibly damaging |
Het |
| Zfp90 |
A |
T |
8: 107,151,112 (GRCm39) |
E275V |
probably damaging |
Het |
| Zscan12 |
C |
G |
13: 21,553,492 (GRCm39) |
Q439E |
probably benign |
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 |
|
|
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'- TAGCATTGCCCTGTAGGAGG -3'
(R):5'- GAGCTGCTTCTAAACTGGCGTAC -3'
Sequencing Primer
(F):5'- CGGCAGAAGTGGGACCTATC -3'
(R):5'- CTTCTAAACTGGCGTACTGTGGAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation