Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Ncapd2'

182978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncapd2

Ensembl Gene

ENSMUSG00000038252

Gene Name

non-SMC condensin I complex, subunit D2

Synonyms

2810406C15Rik, 2810465G24Rik, CNAP1, CAP-D2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

125168007-125191701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125169933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1230 (L1230H)

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: L1230H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: L1230H

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

noncoding transcript
Transcript: ENSMUST00000144588

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

noncoding transcript
Transcript: ENSMUST00000182115

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

noncoding transcript
Transcript: ENSMUST00000182670

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186667

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	probably damaging	Het

Other mutations in Ncapd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Ncapd2	APN	6	125173425	missense	probably benign	0.05
IGL00960:Ncapd2	APN	6	125173848	missense	probably benign
IGL01307:Ncapd2	APN	6	125168619	missense	possibly damaging	0.56
IGL01612:Ncapd2	APN	6	125177872	missense	probably benign	0.01
IGL01903:Ncapd2	APN	6	125177460	missense	probably benign
IGL01987:Ncapd2	APN	6	125185841	splice site	probably benign
IGL01998:Ncapd2	APN	6	125173115	missense	probably benign	0.18
IGL02329:Ncapd2	APN	6	125189818	missense	probably damaging	0.99
IGL02550:Ncapd2	APN	6	125177447	missense	probably benign
IGL02662:Ncapd2	APN	6	125176731	missense	probably damaging	1.00
IGL02817:Ncapd2	APN	6	125170914	critical splice donor site	probably null
IGL03121:Ncapd2	APN	6	125173612	missense	probably benign	0.00
IGL03206:Ncapd2	APN	6	125171697	missense	possibly damaging	0.85
FR4548:Ncapd2	UTSW	6	125173596	critical splice donor site	probably benign
PIT4305001:Ncapd2	UTSW	6	125184027	nonsense	probably null
R0486:Ncapd2	UTSW	6	125184027	nonsense	probably null
R0635:Ncapd2	UTSW	6	125173036	missense	probably benign	0.00
R0699:Ncapd2	UTSW	6	125169880	missense	probably benign
R0746:Ncapd2	UTSW	6	125174264	missense	possibly damaging	0.50
R0893:Ncapd2	UTSW	6	125173482	missense	probably benign
R1385:Ncapd2	UTSW	6	125173115	missense	probably benign	0.18
R1513:Ncapd2	UTSW	6	125170992	missense	probably damaging	1.00
R1601:Ncapd2	UTSW	6	125185772	missense	probably damaging	1.00
R1698:Ncapd2	UTSW	6	125168590	missense	probably null	0.39
R2030:Ncapd2	UTSW	6	125176715	missense	possibly damaging	0.95
R2035:Ncapd2	UTSW	6	125184528	missense	probably benign	0.17
R2359:Ncapd2	UTSW	6	125179416	unclassified	probably benign
R3951:Ncapd2	UTSW	6	125186784	missense	probably damaging	0.98
R3952:Ncapd2	UTSW	6	125186784	missense	probably damaging	0.98
R3953:Ncapd2	UTSW	6	125170734	missense	probably damaging	0.96
R4623:Ncapd2	UTSW	6	125173609	missense	probably benign	0.04
R4630:Ncapd2	UTSW	6	125179233	splice site	probably null
R4667:Ncapd2	UTSW	6	125184518	missense	possibly damaging	0.69
R4769:Ncapd2	UTSW	6	125185745	missense	probably damaging	1.00
R4936:Ncapd2	UTSW	6	125169840	missense	probably benign	0.18
R5130:Ncapd2	UTSW	6	125169924	missense	possibly damaging	0.90
R5465:Ncapd2	UTSW	6	125176783	missense	probably damaging	0.98
R5806:Ncapd2	UTSW	6	125181154	missense	probably damaging	0.98
R5823:Ncapd2	UTSW	6	125168700	missense	probably benign	0.00
R5888:Ncapd2	UTSW	6	125187089	missense	probably damaging	1.00
R5940:Ncapd2	UTSW	6	125168869	missense	probably benign
R6198:Ncapd2	UTSW	6	125179323	nonsense	probably null
R6406:Ncapd2	UTSW	6	125173878	missense	probably benign
R6652:Ncapd2	UTSW	6	125186270	missense	probably benign	0.13
R6959:Ncapd2	UTSW	6	125168920	missense	probably benign
R6977:Ncapd2	UTSW	6	125171509	missense	probably damaging	1.00
R6982:Ncapd2	UTSW	6	125176736	missense	probably damaging	0.96
R7143:Ncapd2	UTSW	6	125179561	missense	probably benign
R7144:Ncapd2	UTSW	6	125176670	missense	probably benign	0.11
R7186:Ncapd2	UTSW	6	125186156	missense	possibly damaging	0.89
R7203:Ncapd2	UTSW	6	125184328	missense	possibly damaging	0.58
R7384:Ncapd2	UTSW	6	125173401	missense	probably benign
R8039:Ncapd2	UTSW	6	125181026	missense	probably damaging	0.98
R8047:Ncapd2	UTSW	6	125189799	missense	probably damaging	0.98
R8048:Ncapd2	UTSW	6	125179698	nonsense	probably null
R8056:Ncapd2	UTSW	6	125171043	missense	probably damaging	1.00
R8097:Ncapd2	UTSW	6	125168982	missense	possibly damaging	0.78
R8489:Ncapd2	UTSW	6	125173782	missense	probably damaging	0.98
R8496:Ncapd2	UTSW	6	125170164	missense	probably damaging	0.99
R8755:Ncapd2	UTSW	6	125171854	missense	possibly damaging	0.69
R8776:Ncapd2	UTSW	6	125177513	missense	probably benign
R8776-TAIL:Ncapd2	UTSW	6	125177513	missense	probably benign
R9015:Ncapd2	UTSW	6	125168322	unclassified	probably benign
R9042:Ncapd2	UTSW	6	125179338	missense	probably benign
R9358:Ncapd2	UTSW	6	125186143	missense	probably benign	0.00
R9437:Ncapd2	UTSW	6	125176692	missense	probably damaging	0.99
RF045:Ncapd2	UTSW	6	125179236	frame shift	probably null

Posted On

2014-05-07