Incidental Mutation 'R6768:Ncaph2'
ID |
532061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncaph2
|
Ensembl Gene |
ENSMUSG00000008690 |
Gene Name |
non-SMC condensin II complex, subunit H2 |
Synonyms |
0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta |
MMRRC Submission |
044884-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
R6768 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89239922-89257029 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 89248202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 166
(Y166*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
|
AlphaFold |
Q8BSP2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036987
AA Change: Y135*
|
SMART Domains |
Protein: ENSMUSP00000036900 Gene: ENSMUSG00000008690 AA Change: Y135*
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000074552
AA Change: Y166*
|
SMART Domains |
Protein: ENSMUSP00000074139 Gene: ENSMUSG00000008690 AA Change: Y166*
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000088717
AA Change: Y166*
|
SMART Domains |
Protein: ENSMUSP00000086095 Gene: ENSMUSG00000008690 AA Change: Y166*
Domain | Start | End | E-Value | Type |
Pfam:CNDH2_N
|
11 |
123 |
1.2e-48 |
PFAM |
Pfam:CNDH2_M
|
147 |
285 |
2.1e-20 |
PFAM |
Pfam:CNDH2_C
|
308 |
598 |
1.9e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
Validation Efficiency |
96% (45/47) |
MGI Phenotype |
FUNCTION: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
probably benign |
Het |
|
Other mutations in Ncaph2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00784:Ncaph2
|
APN |
15 |
89,254,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01640:Ncaph2
|
APN |
15 |
89,248,041 (GRCm39) |
splice site |
probably null |
|
IGL02550:Ncaph2
|
APN |
15 |
89,254,064 (GRCm39) |
nonsense |
probably null |
|
IGL02884:Ncaph2
|
APN |
15 |
89,248,447 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03369:Ncaph2
|
APN |
15 |
89,247,858 (GRCm39) |
missense |
probably benign |
0.43 |
R0051:Ncaph2
|
UTSW |
15 |
89,253,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R0051:Ncaph2
|
UTSW |
15 |
89,253,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R0384:Ncaph2
|
UTSW |
15 |
89,253,594 (GRCm39) |
missense |
probably benign |
0.00 |
R1677:Ncaph2
|
UTSW |
15 |
89,255,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R1680:Ncaph2
|
UTSW |
15 |
89,248,825 (GRCm39) |
missense |
probably benign |
|
R2570:Ncaph2
|
UTSW |
15 |
89,254,678 (GRCm39) |
missense |
probably benign |
0.03 |
R4647:Ncaph2
|
UTSW |
15 |
89,254,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Ncaph2
|
UTSW |
15 |
89,240,030 (GRCm39) |
unclassified |
probably benign |
|
R4795:Ncaph2
|
UTSW |
15 |
89,255,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4796:Ncaph2
|
UTSW |
15 |
89,255,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Ncaph2
|
UTSW |
15 |
89,244,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5089:Ncaph2
|
UTSW |
15 |
89,240,148 (GRCm39) |
critical splice donor site |
probably null |
|
R6143:Ncaph2
|
UTSW |
15 |
89,248,206 (GRCm39) |
critical splice donor site |
probably null |
|
R6500:Ncaph2
|
UTSW |
15 |
89,248,407 (GRCm39) |
missense |
probably benign |
0.00 |
R6827:Ncaph2
|
UTSW |
15 |
89,255,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Ncaph2
|
UTSW |
15 |
89,255,559 (GRCm39) |
missense |
probably benign |
0.00 |
R7272:Ncaph2
|
UTSW |
15 |
89,248,385 (GRCm39) |
missense |
probably benign |
|
R7386:Ncaph2
|
UTSW |
15 |
89,254,459 (GRCm39) |
nonsense |
probably null |
|
R8867:Ncaph2
|
UTSW |
15 |
89,254,605 (GRCm39) |
missense |
probably benign |
0.02 |
R8900:Ncaph2
|
UTSW |
15 |
89,253,594 (GRCm39) |
missense |
probably benign |
0.00 |
R9719:Ncaph2
|
UTSW |
15 |
89,249,526 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCATCCAGTGTGAGTGTTC -3'
(R):5'- CTTGACATGGGGTATGGCTC -3'
Sequencing Primer
(F):5'- ATCCAGTGTGAGTGTTCTGGCC -3'
(R):5'- GGACACATTCCCACTGGATC -3'
|
Posted On |
2018-08-29 |