Mutagenetix > Incidental Mutations

Incidental Mutation 'R5940:Ncapd2'

462489

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

044132-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125168007-125191701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125168869 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1310 (S1310P)

Ref Sequence

ENSEMBL: ENSMUSP00000042260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000182052] [ENSMUST00000182277] [ENSMUST00000183272]

Predicted Effect

probably benign
Transcript: ENSMUST00000043848
AA Change: S1310P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: S1310P

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: ENSMUST00000144205

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: ENSMUST00000186667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188665

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (88/92)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,893,288		probably benign	Het
1110008L16Rik	T	A	12: 55,304,874	W323R	probably damaging	Het
1500015O10Rik	C	T	1: 43,737,241	R41*	probably null	Het
3425401B19Rik	T	C	14: 32,662,688	Y440C	possibly damaging	Het
5430419D17Rik	A	T	7: 131,238,263	D638V	probably damaging	Het
Aasdh	G	T	5: 76,882,898	S618R	probably benign	Het
Alpk1	T	G	3: 127,670,946	T1228P	probably benign	Het
Ank3	T	C	10: 69,920,486	V850A	probably benign	Het
Apeh	A	T	9: 108,091,899		probably null	Het
Ash1l	C	T	3: 88,984,036	T1074I	probably damaging	Het
C3	G	A	17: 57,210,244	S1297F	possibly damaging	Het
Cchcr1	G	A	17: 35,524,993	R284Q	probably damaging	Het
Cd93	A	T	2: 148,442,232	I398N	probably benign	Het
Chrd	G	T	16: 20,734,586	R226L	probably null	Het
Clvs1	A	T	4: 9,449,443	N344I	possibly damaging	Het
Cyp4v3	A	T	8: 45,321,784	I111N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Cysltr2	T	A	14: 73,029,949	Y107F	probably damaging	Het
Defb47	A	T	14: 63,000,910	E28D	probably benign	Het
Dnajc30	T	A	5: 135,064,559	Y103*	probably null	Het
Drap1	T	C	19: 5,423,000	T160A	probably benign	Het
Dsp	A	G	13: 38,196,026	E2249G	possibly damaging	Het
E2f8	T	A	7: 48,871,077	I499F	probably benign	Het
Ebf1	T	A	11: 44,621,221	Y116N	probably damaging	Het
Ect2	C	A	3: 27,115,465	E746D	probably benign	Het
Enpep	T	A	3: 129,312,578	Y333F	probably damaging	Het
Fat4	T	C	3: 38,889,649	V897A	probably benign	Het
Gja3	T	A	14: 57,035,860	S352C	probably damaging	Het
Gm884	T	C	11: 103,613,886	S243G	probably benign	Het
Gpr153	C	A	4: 152,283,375	P561Q	probably benign	Het
Hlcs	T	C	16: 94,134,712	M574V	probably damaging	Het
Hmcn1	A	G	1: 150,657,222	V3070A	probably benign	Het
Hsd3b2	G	T	3: 98,711,971	N219K	probably benign	Het
Htra3	T	C	5: 35,652,980	I453V	possibly damaging	Het
Klrc1	A	T	6: 129,674,935	M220K	possibly damaging	Het
Kntc1	T	G	5: 123,786,195	I1048S	probably benign	Het
Macf1	T	A	4: 123,432,881	D2822V	probably damaging	Het
Mcu	T	A	10: 59,456,732	I42F	possibly damaging	Het
Mkln1	T	A	6: 31,489,372	D521E	probably damaging	Het
Ms4a13	T	C	19: 11,192,966	N5D	possibly damaging	Het
Msh3	T	G	13: 92,249,843	N838T	probably damaging	Het
Msl2	T	A	9: 101,101,091	C221*	probably null	Het
Ncoa6	A	T	2: 155,415,865	M586K	probably damaging	Het
Ndel1	C	T	11: 68,822,571		probably benign	Het
Ndst4	T	C	3: 125,561,419		probably benign	Het
Nes	T	G	3: 87,975,952	V506G	probably damaging	Het
Nrg1	T	C	8: 31,849,344	K200E	probably damaging	Het
Nt5c1b	A	G	12: 10,375,515	K295E	probably damaging	Het
Olfr1085	A	T	2: 86,658,050	M136K	probably damaging	Het
Olfr1278	G	A	2: 111,292,384	V39M	possibly damaging	Het
Olfr1487	T	A	19: 13,619,153		probably null	Het
Olfr750	T	A	14: 51,070,722	I224L	probably damaging	Het
Olfr878	C	T	9: 37,919,437	T260I	probably damaging	Het
Olfr919	G	T	9: 38,697,711	Y218*	probably null	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pde1a	A	G	2: 79,887,839		probably null	Het
Pds5a	A	G	5: 65,643,985		probably benign	Het
Plbd1	A	T	6: 136,613,721		probably benign	Het
Plod2	T	A	9: 92,591,397	V292E	probably benign	Het
Polg	A	G	7: 79,454,071	V879A	possibly damaging	Het
Ppargc1a	C	T	5: 51,473,911	A459T	probably damaging	Het
Psip1	T	C	4: 83,476,322	E83G	probably damaging	Het
Rhbdf1	T	C	11: 32,209,847	D843G	probably benign	Het
Rnpepl1	G	T	1: 92,917,712	C451F	probably damaging	Het
Rrp1	T	C	10: 78,405,415	D206G	probably damaging	Het
Setbp1	A	T	18: 78,755,488	D1492E	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc16a6	C	T	11: 109,473,196		probably benign	Homo
Slc7a6os	A	G	8: 106,210,805	S37P	probably damaging	Het
Tenm4	T	A	7: 96,845,895	S1140T	probably damaging	Het
Thoc6	C	A	17: 23,670,341	R115L	probably benign	Het
Tmem63c	C	T	12: 87,075,172	H385Y	probably benign	Het
Trpm8	G	T	1: 88,351,415	E649*	probably null	Het
Usf1	A	G	1: 171,417,779	E253G	possibly damaging	Het
Vps13d	T	C	4: 145,074,975	T443A	probably benign	Het
Wdr86	T	C	5: 24,722,662	Y93C	probably damaging	Het
Zfp597	A	T	16: 3,865,821	I357N	probably damaging	Het
Zfp709	A	G	8: 71,890,220	I497V	possibly damaging	Het
Zxdc	T	C	6: 90,370,325	S223P	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
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
R5888:Ncapd2	UTSW	6	125187089	missense	probably damaging	1.00
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
RF045:Ncapd2	UTSW	6	125179236	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CGGCTTAGGTGTGACAAAGTC -3'
(R):5'- GTTGGAATCACAGTTTCAGATTGG -3'

Sequencing Primer
(F):5'- GTCATTGTCTGAGTCTACAGAAGTC -3'
(R):5'- CATGGCTATTTCTTTTTAAGCAGGG -3'

Posted On

2017-02-28