Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Ncapd2'

457794

Institutional Source

Beutler Lab

Gene Symbol

Ncapd2

Ensembl Gene

ENSMUSG00000038252

Gene Name

non-SMC condensin I complex, subunit D2

Synonyms

2810406C15Rik, 2810465G24Rik, CNAP1, CAP-D2

MMRRC Submission

044089-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125168007-125191701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125187089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 64 (Y64C)

Ref Sequence

ENSEMBL: ENSMUSP00000139445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000188762] [ENSMUST00000189959]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043848
AA Change: Y64C

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

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: Y64C

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: ENSMUST00000136804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187351

Predicted Effect

probably damaging
Transcript: ENSMUST00000188762
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000189959
AA Change: Y64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139445
Gene: ENSMUSG00000038252
AA Change: Y64C

Domain	Start	End	E-Value	Type
Pfam:Cnd1_N	73	162	8.3e-6	PFAM

Meta Mutation Damage Score

0.1918

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	probably benign	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
IGL01998:Ncapd2	APN	6	125169933	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAAACACGGTGGCAAGCTGG -3'
(R):5'- TTAAAGACCGGGTCTCTCTGTGG -3'

Sequencing Primer
(F):5'- CAAGCTGGATAAATGCTCACTATGG -3'
(R):5'- GGTAGCAACTCTTAGCTGTAGCC -3'

Posted On

2017-02-15