Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03117:Nipbl'

419453

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipbl

Ensembl Gene

ENSMUSG00000022141

Gene Name

NIPBL cohesin loading factor

Synonyms

4921518A06Rik, 4933421G18Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

8290617-8444463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 8332452 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 1447 (L1447W)

Ref Sequence

ENSEMBL: ENSMUSP00000059385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052965]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052965
AA Change: L1447W

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

SMART Domains

Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: L1447W

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
low complexity region	322	338	N/A	INTRINSIC
low complexity region	367	376	N/A	INTRINSIC
low complexity region	447	462	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	639	652	N/A	INTRINSIC
low complexity region	1020	1037	N/A	INTRINSIC
low complexity region	1081	1097	N/A	INTRINSIC
low complexity region	1102	1107	N/A	INTRINSIC
low complexity region	1114	1139	N/A	INTRINSIC
low complexity region	1165	1176	N/A	INTRINSIC
low complexity region	1389	1396	N/A	INTRINSIC
low complexity region	1577	1586	N/A	INTRINSIC
coiled coil region	1628	1656	N/A	INTRINSIC
Pfam:Cohesin_HEAT	1788	1829	1.1e-14	PFAM
Pfam:Nipped-B_C	2269	2450	2.8e-68	PFAM
low complexity region	2477	2501	N/A	INTRINSIC
low complexity region	2502	2512	N/A	INTRINSIC
low complexity region	2538	2550	N/A	INTRINSIC
low complexity region	2626	2632	N/A	INTRINSIC
low complexity region	2660	2684	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice are embryonic lethal. Heterozygous null mice are growth-retarded and show various skeletal anomalies. Heterozygotes for a gene-trap allele are small and show craniofacial, heart, eye, hearing and behavioral defects, delayed bone maturation, reduced body fat, and postnatal mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,467,952	L109P	probably damaging	Het
Caprin2	A	T	6: 148,862,466	S568T	possibly damaging	Het
Catip	A	G	1: 74,364,585	T154A	probably null	Het
Ccdc129	A	G	6: 55,898,129	T355A	probably benign	Het
Ccdc187	A	G	2: 26,287,968	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,374,559	Y39C	probably damaging	Het
Chrdl2	A	T	7: 100,027,580	H203L	possibly damaging	Het
Chrnb2	A	G	3: 89,763,245	V62A	probably damaging	Het
Cklf	T	A	8: 104,257,423	S73T	possibly damaging	Het
Clk1	A	G	1: 58,417,007		probably null	Het
Ctdp1	T	C	18: 80,449,501	D593G	probably damaging	Het
Ctsc	A	T	7: 88,309,780	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 24,889,842	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,777,903	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,436,291		probably benign	Het
Dnajb11	G	T	16: 22,869,138	R206L	probably benign	Het
Dsel	A	T	1: 111,859,178		probably benign	Het
Ehd2	T	C	7: 15,950,471	S468G	possibly damaging	Het
Ehmt2	T	A	17: 34,906,811	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,298,653	E299D	probably benign	Het
Eps8l1	T	C	7: 4,470,887	L231P	probably damaging	Het
Esd	A	G	14: 74,741,246	T83A	probably damaging	Het
Flt3	A	G	5: 147,356,210	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,330,774		probably benign	Het
Hpx	G	T	7: 105,600,071	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,416,700	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,119,266	V2503I	probably damaging	Het
Matr3	G	T	18: 35,572,657	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,816,279	Y129*	probably null	Het
Myh2	T	C	11: 67,180,884	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,000,944	A233S	probably damaging	Het
Paf1	T	A	7: 28,395,056	C31S	possibly damaging	Het
Parp4	A	C	14: 56,602,856	T573P	probably benign	Het
Phf12	A	T	11: 78,023,020		probably benign	Het
Pi4k2b	A	G	5: 52,748,423	E102G	probably benign	Het
Pou2f1	A	G	1: 165,934,813	C7R	probably benign	Het
Prpsap2	T	C	11: 61,740,989	R181G	probably benign	Het
Psd	A	G	19: 46,323,122		probably benign	Het
Ptgds	T	C	2: 25,469,610	T22A	probably benign	Het
Rab21	A	T	10: 115,315,192		probably null	Het
Relb	T	C	7: 19,612,657	D330G	probably damaging	Het
Rhoc	A	T	3: 104,792,920	T100S	probably benign	Het
Ryr1	G	T	7: 29,102,964	H744N	probably damaging	Het
Sardh	C	T	2: 27,239,446	G280D	probably damaging	Het
Scyl2	A	C	10: 89,657,867	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,535,400	F267S	probably damaging	Het
Slc44a5	T	A	3: 154,251,077	M322K	probably benign	Het
St8sia4	T	A	1: 95,591,783	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,203,159	Y395*	probably null	Het
Unc13c	A	T	9: 73,534,025	S1897R	probably benign	Het
Vangl2	A	G	1: 172,012,848	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,360,516	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,287,246	I209V	probably benign	Het
Zfp809	A	G	9: 22,238,654	Y149C	probably damaging	Het

Other mutations in Nipbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Nipbl	APN	15	8366673	missense	probably damaging	0.98
IGL00712:Nipbl	APN	15	8369474	missense	probably damaging	0.97
IGL00789:Nipbl	APN	15	8296869	missense	probably damaging	1.00
IGL01025:Nipbl	APN	15	8350455	missense	possibly damaging	0.46
IGL01087:Nipbl	APN	15	8350497	missense	possibly damaging	0.67
IGL01474:Nipbl	APN	15	8311209	missense	possibly damaging	0.63
IGL01537:Nipbl	APN	15	8350539	missense	probably benign
IGL01723:Nipbl	APN	15	8335071	missense	possibly damaging	0.71
IGL01749:Nipbl	APN	15	8361821	missense	probably benign	0.13
IGL02398:Nipbl	APN	15	8327090	missense	probably damaging	1.00
IGL02437:Nipbl	APN	15	8359074	missense	probably damaging	1.00
IGL02450:Nipbl	APN	15	8343574	missense	probably damaging	0.99
IGL02477:Nipbl	APN	15	8323647	splice site	probably null
IGL02547:Nipbl	APN	15	8351598	missense	probably benign
IGL02678:Nipbl	APN	15	8351110	missense	possibly damaging	0.92
IGL02679:Nipbl	APN	15	8295553	missense	probably benign	0.34
IGL03003:Nipbl	APN	15	8350314	missense	probably damaging	1.00
IGL03162:Nipbl	APN	15	8338979	missense	probably benign	0.37
IGL03224:Nipbl	APN	15	8293085	missense	probably damaging	0.98
IGL03339:Nipbl	APN	15	8350876	missense	probably benign	0.12
R0271:Nipbl	UTSW	15	8361737	missense	possibly damaging	0.76
R0346:Nipbl	UTSW	15	8360956	missense	probably damaging	0.99
R0347:Nipbl	UTSW	15	8350732	missense	probably benign
R0422:Nipbl	UTSW	15	8351628	missense	probably benign
R0486:Nipbl	UTSW	15	8338870	splice site	probably benign
R0652:Nipbl	UTSW	15	8303480	missense	probably benign	0.23
R0667:Nipbl	UTSW	15	8361004	missense	possibly damaging	0.86
R0689:Nipbl	UTSW	15	8293078	splice site	probably null
R0726:Nipbl	UTSW	15	8351555	missense	probably benign
R0881:Nipbl	UTSW	15	8307612	missense	probably damaging	0.98
R0904:Nipbl	UTSW	15	8361718	missense	probably benign
R0969:Nipbl	UTSW	15	8292228	missense	probably damaging	1.00
R1401:Nipbl	UTSW	15	8372173	missense	probably damaging	0.97
R1479:Nipbl	UTSW	15	8350289	missense	probably benign	0.00
R1495:Nipbl	UTSW	15	8351280	missense	probably benign	0.00
R1609:Nipbl	UTSW	15	8366664	missense	probably damaging	1.00
R1679:Nipbl	UTSW	15	8302912	missense	probably benign	0.31
R1756:Nipbl	UTSW	15	8338551	missense	possibly damaging	0.91
R1778:Nipbl	UTSW	15	8319488	missense	probably damaging	1.00
R1835:Nipbl	UTSW	15	8343517	missense	possibly damaging	0.80
R1883:Nipbl	UTSW	15	8327132	missense	probably damaging	1.00
R1914:Nipbl	UTSW	15	8343630	missense	possibly damaging	0.93
R1915:Nipbl	UTSW	15	8343630	missense	possibly damaging	0.93
R2030:Nipbl	UTSW	15	8350287	missense	probably damaging	1.00
R2046:Nipbl	UTSW	15	8324467	missense	probably benign	0.08
R2076:Nipbl	UTSW	15	8311207	missense	probably benign	0.11
R2163:Nipbl	UTSW	15	8336919	missense	probably damaging	0.99
R2170:Nipbl	UTSW	15	8293218	missense	probably damaging	1.00
R2425:Nipbl	UTSW	15	8351482	missense	probably benign	0.06
R2475:Nipbl	UTSW	15	8335006	missense	probably benign	0.05
R2484:Nipbl	UTSW	15	8323698	missense	probably damaging	0.99
R2970:Nipbl	UTSW	15	8311239	missense	probably damaging	1.00
R3116:Nipbl	UTSW	15	8343592	missense	probably benign	0.00
R3620:Nipbl	UTSW	15	8333024	missense	probably damaging	0.99
R3725:Nipbl	UTSW	15	8295661	missense	probably damaging	0.97
R3745:Nipbl	UTSW	15	8358874	missense	probably benign
R3902:Nipbl	UTSW	15	8350246	missense	possibly damaging	0.94
R3960:Nipbl	UTSW	15	8350534	missense	probably benign
R4164:Nipbl	UTSW	15	8338934	missense	probably benign	0.24
R4246:Nipbl	UTSW	15	8332432	missense	probably damaging	1.00
R4381:Nipbl	UTSW	15	8359206	missense	probably benign	0.00
R4394:Nipbl	UTSW	15	8361861	missense	probably benign	0.00
R4439:Nipbl	UTSW	15	8338724	missense	probably damaging	0.98
R4440:Nipbl	UTSW	15	8366658	missense	probably damaging	0.98
R4441:Nipbl	UTSW	15	8366658	missense	probably damaging	0.98
R4672:Nipbl	UTSW	15	8302984	missense	probably damaging	1.00
R4749:Nipbl	UTSW	15	8365829	missense	possibly damaging	0.95
R5300:Nipbl	UTSW	15	8351497	missense	probably benign
R5428:Nipbl	UTSW	15	8330296	missense	probably benign	0.00
R5641:Nipbl	UTSW	15	8366712	missense	possibly damaging	0.93
R5643:Nipbl	UTSW	15	8358907	missense	probably benign
R5644:Nipbl	UTSW	15	8358907	missense	probably benign
R5681:Nipbl	UTSW	15	8301382	missense	probably benign	0.22
R5741:Nipbl	UTSW	15	8324649	missense	possibly damaging	0.47
R5899:Nipbl	UTSW	15	8334844	splice site	probably null
R5970:Nipbl	UTSW	15	8296818	missense	probably benign	0.27
R6041:Nipbl	UTSW	15	8324264	missense	probably damaging	1.00
R6059:Nipbl	UTSW	15	8295568	missense	probably damaging	1.00
R6213:Nipbl	UTSW	15	8334906	missense	probably damaging	1.00
R6216:Nipbl	UTSW	15	8318383	missense	probably damaging	0.99
R6236:Nipbl	UTSW	15	8324580	missense	possibly damaging	0.88
R6267:Nipbl	UTSW	15	8300895	missense	possibly damaging	0.46
R6296:Nipbl	UTSW	15	8300895	missense	possibly damaging	0.46
R6388:Nipbl	UTSW	15	8300784	missense	probably damaging	0.99
R6427:Nipbl	UTSW	15	8351565	missense	probably benign
R6707:Nipbl	UTSW	15	8324559	missense	probably benign	0.01
R6731:Nipbl	UTSW	15	8322590	missense	probably damaging	1.00
R6921:Nipbl	UTSW	15	8303485	missense	probably benign	0.28
R7239:Nipbl	UTSW	15	8292135	critical splice donor site	probably null
R7346:Nipbl	UTSW	15	8343606	missense	possibly damaging	0.94
R7485:Nipbl	UTSW	15	8330295	missense	probably benign	0.01
R7486:Nipbl	UTSW	15	8295636	missense	probably benign	0.25
R7598:Nipbl	UTSW	15	8343493	missense	probably benign	0.24
R7609:Nipbl	UTSW	15	8305872	missense	probably benign	0.27
R7674:Nipbl	UTSW	15	8293101	missense	probably benign	0.15
R7706:Nipbl	UTSW	15	8351526	missense	probably benign	0.01
R7760:Nipbl	UTSW	15	8358702	missense	probably damaging	1.00
R7766:Nipbl	UTSW	15	8296849	missense	probably benign	0.45
R7825:Nipbl	UTSW	15	8291487	missense	probably damaging	1.00
R7862:Nipbl	UTSW	15	8325752	missense	probably benign	0.06
R7945:Nipbl	UTSW	15	8325752	missense	probably benign	0.06
RF020:Nipbl	UTSW	15	8358934	missense	probably damaging	0.98
X0022:Nipbl	UTSW	15	8351715	missense	probably benign	0.05
X0027:Nipbl	UTSW	15	8323537	missense	probably damaging	1.00
Z1088:Nipbl	UTSW	15	8307882	missense	probably damaging	1.00
Z1176:Nipbl	UTSW	15	8338699	missense	possibly damaging	0.88
Z1177:Nipbl	UTSW	15	8336952	missense	probably damaging	1.00
Z1177:Nipbl	UTSW	15	8338680	critical splice donor site	probably null

Posted On

2016-08-02