Mutagenetix > Incidental Mutation

Incidental Mutation 'RF045:Ncapd2'

604994

Institutional Source

Beutler Lab

Gene Symbol

Ncapd2

Ensembl Gene

ENSMUSG00000038252

Gene Name

non-SMC condensin I complex, subunit D2

Synonyms

2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

RF045 (G1)

Quality Score

135.467

Status

Not validated

Chromosome

Chromosomal Location

125144970-125168664 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

ACT to ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT at 125156199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042260 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043848

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)		probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 5,045,858 (GRCm39)		probably benign	Het
Cdsn	CAGC	CAGCAGCTCTCAGTCAGGAAGTAGC	17: 35,865,865 (GRCm39)		probably benign	Het
Cyb5r4	ATGT	ATGTGAGACACACTGCCCAGGGATGTGT	9: 86,922,455 (GRCm39)		probably null	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGAA	9: 86,922,500 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,289,690 (GRCm39)	H186Y	probably benign	Het
Dbr1	AAGAGGA	AAGAGGAAGAGGA	9: 99,465,724 (GRCm39)		probably benign	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Dnmt1	TACCTCGTT	TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT	9: 20,821,433 (GRCm39)		probably benign	Het
Ecrg4	TTCTGTA	T	1: 43,776,352 (GRCm39)		probably benign	Het
Gabre	CCGGCT	CCGGCTGCGGCT	X: 71,313,651 (GRCm39)		probably benign	Het
Gabre	CTCAGGCT	C	X: 71,313,787 (GRCm39)		probably null	Het
Garin5a	GGAGGA	GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA	7: 44,149,956 (GRCm39)		probably null	Het
Iqcf4	TTCCTTTTCCTTTT	TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT	9: 106,447,809 (GRCm39)		probably benign	Het
Kcnq3	CCGCCAGCCGC	CC	15: 66,158,033 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGTCACAG	1: 83,019,864 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACCACAGCCACAGCCACCACAGC	CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,982 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,599 (GRCm39)		probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCC	CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC	2: 121,136,774 (GRCm39)		probably benign	Het
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Ntn4	G	T	10: 93,546,487 (GRCm39)	R380L	possibly damaging	Het
Nusap1	A	ATACACGTTAGCAGTGAGGAGCAAGCTGAGG	2: 119,458,091 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,700,869 (GRCm39)	C605Y	probably damaging	Het
Ptms	CTCCTC	CTCCTCCTC	6: 124,891,413 (GRCm39)		probably benign	Het
Snx1	CTGTT	CTGTTGTT	9: 66,012,204 (GRCm39)		probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC	17: 78,984,711 (GRCm39)		probably null	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,087 (GRCm39)		probably benign	Het

Other mutations in Ncapd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Ncapd2	APN	6	125,150,388 (GRCm39)	missense	probably benign	0.05
IGL00960:Ncapd2	APN	6	125,150,811 (GRCm39)	missense	probably benign
IGL01307:Ncapd2	APN	6	125,145,582 (GRCm39)	missense	possibly damaging	0.56
IGL01612:Ncapd2	APN	6	125,154,835 (GRCm39)	missense	probably benign	0.01
IGL01903:Ncapd2	APN	6	125,154,423 (GRCm39)	missense	probably benign
IGL01987:Ncapd2	APN	6	125,162,804 (GRCm39)	splice site	probably benign
IGL01998:Ncapd2	APN	6	125,146,896 (GRCm39)	missense	probably damaging	1.00
IGL01998:Ncapd2	APN	6	125,150,078 (GRCm39)	missense	probably benign	0.18
IGL02329:Ncapd2	APN	6	125,166,781 (GRCm39)	missense	probably damaging	0.99
IGL02550:Ncapd2	APN	6	125,154,410 (GRCm39)	missense	probably benign
IGL02662:Ncapd2	APN	6	125,153,694 (GRCm39)	missense	probably damaging	1.00
IGL02817:Ncapd2	APN	6	125,147,877 (GRCm39)	critical splice donor site	probably null
IGL03121:Ncapd2	APN	6	125,150,575 (GRCm39)	missense	probably benign	0.00
IGL03206:Ncapd2	APN	6	125,148,660 (GRCm39)	missense	possibly damaging	0.85
FR4548:Ncapd2	UTSW	6	125,150,559 (GRCm39)	critical splice donor site	probably benign
PIT4305001:Ncapd2	UTSW	6	125,160,990 (GRCm39)	nonsense	probably null
R0486:Ncapd2	UTSW	6	125,160,990 (GRCm39)	nonsense	probably null
R0635:Ncapd2	UTSW	6	125,149,999 (GRCm39)	missense	probably benign	0.00
R0699:Ncapd2	UTSW	6	125,146,843 (GRCm39)	missense	probably benign
R0746:Ncapd2	UTSW	6	125,151,227 (GRCm39)	missense	possibly damaging	0.50
R0893:Ncapd2	UTSW	6	125,150,445 (GRCm39)	missense	probably benign
R1385:Ncapd2	UTSW	6	125,150,078 (GRCm39)	missense	probably benign	0.18
R1513:Ncapd2	UTSW	6	125,147,955 (GRCm39)	missense	probably damaging	1.00
R1601:Ncapd2	UTSW	6	125,162,735 (GRCm39)	missense	probably damaging	1.00
R1698:Ncapd2	UTSW	6	125,145,553 (GRCm39)	missense	probably null	0.39
R2030:Ncapd2	UTSW	6	125,153,678 (GRCm39)	missense	possibly damaging	0.95
R2035:Ncapd2	UTSW	6	125,161,491 (GRCm39)	missense	probably benign	0.17
R2359:Ncapd2	UTSW	6	125,156,379 (GRCm39)	unclassified	probably benign
R3951:Ncapd2	UTSW	6	125,163,747 (GRCm39)	missense	probably damaging	0.98
R3952:Ncapd2	UTSW	6	125,163,747 (GRCm39)	missense	probably damaging	0.98
R3953:Ncapd2	UTSW	6	125,147,697 (GRCm39)	missense	probably damaging	0.96
R4623:Ncapd2	UTSW	6	125,150,572 (GRCm39)	missense	probably benign	0.04
R4630:Ncapd2	UTSW	6	125,156,196 (GRCm39)	splice site	probably null
R4667:Ncapd2	UTSW	6	125,161,481 (GRCm39)	missense	possibly damaging	0.69
R4769:Ncapd2	UTSW	6	125,162,708 (GRCm39)	missense	probably damaging	1.00
R4936:Ncapd2	UTSW	6	125,146,803 (GRCm39)	missense	probably benign	0.18
R5130:Ncapd2	UTSW	6	125,146,887 (GRCm39)	missense	possibly damaging	0.90
R5465:Ncapd2	UTSW	6	125,153,746 (GRCm39)	missense	probably damaging	0.98
R5806:Ncapd2	UTSW	6	125,158,117 (GRCm39)	missense	probably damaging	0.98
R5823:Ncapd2	UTSW	6	125,145,663 (GRCm39)	missense	probably benign	0.00
R5888:Ncapd2	UTSW	6	125,164,052 (GRCm39)	missense	probably damaging	1.00
R5940:Ncapd2	UTSW	6	125,145,832 (GRCm39)	missense	probably benign
R6198:Ncapd2	UTSW	6	125,156,286 (GRCm39)	nonsense	probably null
R6406:Ncapd2	UTSW	6	125,150,841 (GRCm39)	missense	probably benign
R6652:Ncapd2	UTSW	6	125,163,233 (GRCm39)	missense	probably benign	0.13
R6959:Ncapd2	UTSW	6	125,145,883 (GRCm39)	missense	probably benign
R6977:Ncapd2	UTSW	6	125,148,472 (GRCm39)	missense	probably damaging	1.00
R6982:Ncapd2	UTSW	6	125,153,699 (GRCm39)	missense	probably damaging	0.96
R7143:Ncapd2	UTSW	6	125,156,524 (GRCm39)	missense	probably benign
R7144:Ncapd2	UTSW	6	125,153,633 (GRCm39)	missense	probably benign	0.11
R7186:Ncapd2	UTSW	6	125,163,119 (GRCm39)	missense	possibly damaging	0.89
R7203:Ncapd2	UTSW	6	125,161,291 (GRCm39)	missense	possibly damaging	0.58
R7384:Ncapd2	UTSW	6	125,150,364 (GRCm39)	missense	probably benign
R8039:Ncapd2	UTSW	6	125,157,989 (GRCm39)	missense	probably damaging	0.98
R8047:Ncapd2	UTSW	6	125,166,762 (GRCm39)	missense	probably damaging	0.98
R8048:Ncapd2	UTSW	6	125,156,661 (GRCm39)	nonsense	probably null
R8056:Ncapd2	UTSW	6	125,148,006 (GRCm39)	missense	probably damaging	1.00
R8097:Ncapd2	UTSW	6	125,145,945 (GRCm39)	missense	possibly damaging	0.78
R8489:Ncapd2	UTSW	6	125,150,745 (GRCm39)	missense	probably damaging	0.98
R8496:Ncapd2	UTSW	6	125,147,127 (GRCm39)	missense	probably damaging	0.99
R8755:Ncapd2	UTSW	6	125,148,817 (GRCm39)	missense	possibly damaging	0.69
R8776:Ncapd2	UTSW	6	125,154,476 (GRCm39)	missense	probably benign
R8776-TAIL:Ncapd2	UTSW	6	125,154,476 (GRCm39)	missense	probably benign
R9015:Ncapd2	UTSW	6	125,145,285 (GRCm39)	unclassified	probably benign
R9042:Ncapd2	UTSW	6	125,156,301 (GRCm39)	missense	probably benign
R9358:Ncapd2	UTSW	6	125,163,106 (GRCm39)	missense	probably benign	0.00
R9437:Ncapd2	UTSW	6	125,153,655 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAATACGCATTTGGTCAGAC -3'
(R):5'- TTCAGCTGCAGCACTAGACC -3'

Sequencing Primer
(F):5'- CGCATTTGGTCAGACATTACTACAGC -3'
(R):5'- TGCAGCACTAGACCCGGAG -3'

Posted On

2019-12-04