Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Ncapd2'

541648

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125168007-125191701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125168920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1293 (F1293L)

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 benign
Transcript: ENSMUST00000043848
AA Change: F1293L

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

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: F1293L

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

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	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
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
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
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'- CTACAGAAGTCAGAGGCTGTAG -3'
(R):5'- CCTGTGGTGGCATCAGTTAG -3'

Sequencing Primer
(F):5'- GCTGTAGCCTTGAGACTAGAAAAG -3'
(R):5'- GGCATCAGTTAGTTGGAATCAC -3'

Posted On

2018-11-28