Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01087:Nipbl'

52785

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

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

8290617-8444463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8350497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 937 (S937I)

Ref Sequence

ENSEMBL: ENSMUSP00000059385 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052965
AA Change: S937I

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: S937I

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,162,788 (GRCm38)		probably null	Het
Abca6	C	A	11: 110,191,650 (GRCm38)	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,933,624 (GRCm38)	K46N	probably damaging	Het
Ash1l	T	A	3: 89,063,902 (GRCm38)	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,166,191 (GRCm38)	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,325,310 (GRCm38)	D394G	probably damaging	Het
Btbd10	T	C	7: 113,316,556 (GRCm38)	D442G	probably damaging	Het
Cd44	A	T	2: 102,822,262 (GRCm38)	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm38)	S162N	probably damaging	Het
Chsy1	T	G	7: 66,172,126 (GRCm38)	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,463,969 (GRCm38)		probably benign	Het
Crtc3	T	C	7: 80,598,739 (GRCm38)		probably benign	Het
Cul1	A	G	6: 47,509,044 (GRCm38)	T342A	probably benign	Het
Dgki	T	C	6: 37,012,911 (GRCm38)	D631G	probably damaging	Het
Eif3b	T	C	5: 140,441,107 (GRCm38)	I706T	probably damaging	Het
Fam120a	A	G	13: 48,902,073 (GRCm38)	L713P	probably damaging	Het
I830077J02Rik	C	A	3: 105,928,733 (GRCm38)		probably null	Het
Jmjd8	A	C	17: 25,829,171 (GRCm38)		probably benign	Het
Kmt5a	T	C	5: 124,451,380 (GRCm38)		probably benign	Het
Krt87	C	A	15: 101,431,825 (GRCm38)	C486F	probably benign	Het
Lrp2	A	T	2: 69,524,073 (GRCm38)	N470K	probably damaging	Het
Med1	C	A	11: 98,180,285 (GRCm38)	D79Y	probably damaging	Het
Myo1d	A	G	11: 80,682,435 (GRCm38)	S189P	probably damaging	Het
Myo9a	T	A	9: 59,790,078 (GRCm38)	Y381N	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858 (GRCm38)		noncoding transcript	Het
Nutm2	A	G	13: 50,469,629 (GRCm38)	T121A	probably damaging	Het
Olfr93	C	T	17: 37,151,441 (GRCm38)	C177Y	probably damaging	Het
Opa1	C	T	16: 29,586,997 (GRCm38)	P127S	probably damaging	Het
Pcdh15	A	T	10: 74,342,632 (GRCm38)	I574F	possibly damaging	Het
Pcnx	G	A	12: 81,995,339 (GRCm38)		probably benign	Het
Prex2	A	G	1: 11,068,104 (GRCm38)	T136A	probably benign	Het
Prph2	A	G	17: 46,911,159 (GRCm38)	T155A	probably damaging	Het
Rsl1d1	T	C	16: 11,194,675 (GRCm38)	K296E	possibly damaging	Het
Syne1	A	T	10: 5,425,708 (GRCm38)	I128N	probably damaging	Het
Tlk1	A	T	2: 70,752,316 (GRCm38)	N156K	possibly damaging	Het
Trem2	C	T	17: 48,351,928 (GRCm38)	T222I	probably damaging	Het
Trip12	A	T	1: 84,757,859 (GRCm38)	F872L	probably damaging	Het
Trrap	T	A	5: 144,846,539 (GRCm38)	S3393T	probably damaging	Het
Vwa8	T	A	14: 78,935,229 (GRCm38)	S304T	probably benign	Het
Zc3h7a	T	C	16: 11,153,182 (GRCm38)	T328A	probably benign	Het

Other mutations in Nipbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Nipbl	APN	15	8,366,673 (GRCm38)	missense	probably damaging	0.98
IGL00712:Nipbl	APN	15	8,369,474 (GRCm38)	missense	probably damaging	0.97
IGL00789:Nipbl	APN	15	8,296,869 (GRCm38)	missense	probably damaging	1.00
IGL01025:Nipbl	APN	15	8,350,455 (GRCm38)	missense	possibly damaging	0.46
IGL01474:Nipbl	APN	15	8,311,209 (GRCm38)	missense	possibly damaging	0.63
IGL01537:Nipbl	APN	15	8,350,539 (GRCm38)	missense	probably benign
IGL01723:Nipbl	APN	15	8,335,071 (GRCm38)	missense	possibly damaging	0.71
IGL01749:Nipbl	APN	15	8,361,821 (GRCm38)	missense	probably benign	0.13
IGL02398:Nipbl	APN	15	8,327,090 (GRCm38)	missense	probably damaging	1.00
IGL02437:Nipbl	APN	15	8,359,074 (GRCm38)	missense	probably damaging	1.00
IGL02450:Nipbl	APN	15	8,343,574 (GRCm38)	missense	probably damaging	0.99
IGL02477:Nipbl	APN	15	8,323,647 (GRCm38)	splice site	probably null
IGL02547:Nipbl	APN	15	8,351,598 (GRCm38)	missense	probably benign
IGL02678:Nipbl	APN	15	8,351,110 (GRCm38)	missense	possibly damaging	0.92
IGL02679:Nipbl	APN	15	8,295,553 (GRCm38)	missense	probably benign	0.34
IGL03003:Nipbl	APN	15	8,350,314 (GRCm38)	missense	probably damaging	1.00
IGL03117:Nipbl	APN	15	8,332,452 (GRCm38)	missense	probably damaging	1.00
IGL03162:Nipbl	APN	15	8,338,979 (GRCm38)	missense	probably benign	0.37
IGL03224:Nipbl	APN	15	8,293,085 (GRCm38)	missense	probably damaging	0.98
IGL03339:Nipbl	APN	15	8,350,876 (GRCm38)	missense	probably benign	0.12
R0346_Nipbl_297	UTSW	15	8,360,956 (GRCm38)	missense	probably damaging	0.99
R0347_Nipbl_476	UTSW	15	8,350,732 (GRCm38)	missense	probably benign
R3620_nipbl_616	UTSW	15	8,333,024 (GRCm38)	missense	probably damaging	0.99
R6388_Nipbl_651	UTSW	15	8,300,784 (GRCm38)	missense	probably damaging	0.99
R8441_Nipbl_224	UTSW	15	8,293,115 (GRCm38)	missense	probably benign	0.00
R0271:Nipbl	UTSW	15	8,361,737 (GRCm38)	missense	possibly damaging	0.76
R0346:Nipbl	UTSW	15	8,360,956 (GRCm38)	missense	probably damaging	0.99
R0347:Nipbl	UTSW	15	8,350,732 (GRCm38)	missense	probably benign
R0422:Nipbl	UTSW	15	8,351,628 (GRCm38)	missense	probably benign
R0486:Nipbl	UTSW	15	8,338,870 (GRCm38)	splice site	probably benign
R0652:Nipbl	UTSW	15	8,303,480 (GRCm38)	missense	probably benign	0.23
R0667:Nipbl	UTSW	15	8,361,004 (GRCm38)	missense	possibly damaging	0.86
R0689:Nipbl	UTSW	15	8,293,078 (GRCm38)	splice site	probably null
R0726:Nipbl	UTSW	15	8,351,555 (GRCm38)	missense	probably benign
R0881:Nipbl	UTSW	15	8,307,612 (GRCm38)	missense	probably damaging	0.98
R0904:Nipbl	UTSW	15	8,361,718 (GRCm38)	missense	probably benign
R0969:Nipbl	UTSW	15	8,292,228 (GRCm38)	missense	probably damaging	1.00
R1401:Nipbl	UTSW	15	8,372,173 (GRCm38)	missense	probably damaging	0.97
R1479:Nipbl	UTSW	15	8,350,289 (GRCm38)	missense	probably benign	0.00
R1495:Nipbl	UTSW	15	8,351,280 (GRCm38)	missense	probably benign	0.00
R1609:Nipbl	UTSW	15	8,366,664 (GRCm38)	missense	probably damaging	1.00
R1679:Nipbl	UTSW	15	8,302,912 (GRCm38)	missense	probably benign	0.31
R1756:Nipbl	UTSW	15	8,338,551 (GRCm38)	missense	possibly damaging	0.91
R1778:Nipbl	UTSW	15	8,319,488 (GRCm38)	missense	probably damaging	1.00
R1835:Nipbl	UTSW	15	8,343,517 (GRCm38)	missense	possibly damaging	0.80
R1883:Nipbl	UTSW	15	8,327,132 (GRCm38)	missense	probably damaging	1.00
R1914:Nipbl	UTSW	15	8,343,630 (GRCm38)	missense	possibly damaging	0.93
R1915:Nipbl	UTSW	15	8,343,630 (GRCm38)	missense	possibly damaging	0.93
R2030:Nipbl	UTSW	15	8,350,287 (GRCm38)	missense	probably damaging	1.00
R2046:Nipbl	UTSW	15	8,324,467 (GRCm38)	missense	probably benign	0.08
R2076:Nipbl	UTSW	15	8,311,207 (GRCm38)	missense	probably benign	0.11
R2163:Nipbl	UTSW	15	8,336,919 (GRCm38)	missense	probably damaging	0.99
R2170:Nipbl	UTSW	15	8,293,218 (GRCm38)	missense	probably damaging	1.00
R2425:Nipbl	UTSW	15	8,351,482 (GRCm38)	missense	probably benign	0.06
R2475:Nipbl	UTSW	15	8,335,006 (GRCm38)	missense	probably benign	0.05
R2484:Nipbl	UTSW	15	8,323,698 (GRCm38)	missense	probably damaging	0.99
R2970:Nipbl	UTSW	15	8,311,239 (GRCm38)	missense	probably damaging	1.00
R3116:Nipbl	UTSW	15	8,343,592 (GRCm38)	missense	probably benign	0.00
R3620:Nipbl	UTSW	15	8,333,024 (GRCm38)	missense	probably damaging	0.99
R3725:Nipbl	UTSW	15	8,295,661 (GRCm38)	missense	probably damaging	0.97
R3745:Nipbl	UTSW	15	8,358,874 (GRCm38)	missense	probably benign
R3902:Nipbl	UTSW	15	8,350,246 (GRCm38)	missense	possibly damaging	0.94
R3960:Nipbl	UTSW	15	8,350,534 (GRCm38)	missense	probably benign
R4164:Nipbl	UTSW	15	8,338,934 (GRCm38)	missense	probably benign	0.24
R4246:Nipbl	UTSW	15	8,332,432 (GRCm38)	missense	probably damaging	1.00
R4381:Nipbl	UTSW	15	8,359,206 (GRCm38)	missense	probably benign	0.00
R4394:Nipbl	UTSW	15	8,361,861 (GRCm38)	missense	probably benign	0.00
R4439:Nipbl	UTSW	15	8,338,724 (GRCm38)	missense	probably damaging	0.98
R4440:Nipbl	UTSW	15	8,366,658 (GRCm38)	missense	probably damaging	0.98
R4441:Nipbl	UTSW	15	8,366,658 (GRCm38)	missense	probably damaging	0.98
R4672:Nipbl	UTSW	15	8,302,984 (GRCm38)	missense	probably damaging	1.00
R4749:Nipbl	UTSW	15	8,365,829 (GRCm38)	missense	possibly damaging	0.95
R5300:Nipbl	UTSW	15	8,351,497 (GRCm38)	missense	probably benign
R5428:Nipbl	UTSW	15	8,330,296 (GRCm38)	missense	probably benign	0.00
R5641:Nipbl	UTSW	15	8,366,712 (GRCm38)	missense	possibly damaging	0.93
R5643:Nipbl	UTSW	15	8,358,907 (GRCm38)	missense	probably benign
R5644:Nipbl	UTSW	15	8,358,907 (GRCm38)	missense	probably benign
R5681:Nipbl	UTSW	15	8,301,382 (GRCm38)	missense	probably benign	0.22
R5741:Nipbl	UTSW	15	8,324,649 (GRCm38)	missense	possibly damaging	0.47
R5899:Nipbl	UTSW	15	8,334,844 (GRCm38)	splice site	probably null
R5970:Nipbl	UTSW	15	8,296,818 (GRCm38)	missense	probably benign	0.27
R6041:Nipbl	UTSW	15	8,324,264 (GRCm38)	missense	probably damaging	1.00
R6059:Nipbl	UTSW	15	8,295,568 (GRCm38)	missense	probably damaging	1.00
R6213:Nipbl	UTSW	15	8,334,906 (GRCm38)	missense	probably damaging	1.00
R6216:Nipbl	UTSW	15	8,318,383 (GRCm38)	missense	probably damaging	0.99
R6236:Nipbl	UTSW	15	8,324,580 (GRCm38)	missense	possibly damaging	0.88
R6267:Nipbl	UTSW	15	8,300,895 (GRCm38)	missense	possibly damaging	0.46
R6296:Nipbl	UTSW	15	8,300,895 (GRCm38)	missense	possibly damaging	0.46
R6388:Nipbl	UTSW	15	8,300,784 (GRCm38)	missense	probably damaging	0.99
R6427:Nipbl	UTSW	15	8,351,565 (GRCm38)	missense	probably benign
R6707:Nipbl	UTSW	15	8,324,559 (GRCm38)	missense	probably benign	0.01
R6731:Nipbl	UTSW	15	8,322,590 (GRCm38)	missense	probably damaging	1.00
R6921:Nipbl	UTSW	15	8,303,485 (GRCm38)	missense	probably benign	0.28
R7239:Nipbl	UTSW	15	8,292,135 (GRCm38)	critical splice donor site	probably null
R7346:Nipbl	UTSW	15	8,343,606 (GRCm38)	missense	possibly damaging	0.94
R7485:Nipbl	UTSW	15	8,330,295 (GRCm38)	missense	probably benign	0.01
R7486:Nipbl	UTSW	15	8,295,636 (GRCm38)	missense	probably benign	0.25
R7598:Nipbl	UTSW	15	8,343,493 (GRCm38)	missense	probably benign	0.24
R7609:Nipbl	UTSW	15	8,305,872 (GRCm38)	missense	probably benign	0.27
R7674:Nipbl	UTSW	15	8,293,101 (GRCm38)	missense	probably benign	0.15
R7706:Nipbl	UTSW	15	8,351,526 (GRCm38)	missense	probably benign	0.01
R7760:Nipbl	UTSW	15	8,358,702 (GRCm38)	missense	probably damaging	1.00
R7766:Nipbl	UTSW	15	8,296,849 (GRCm38)	missense	probably benign	0.45
R7825:Nipbl	UTSW	15	8,291,487 (GRCm38)	missense	probably damaging	1.00
R7862:Nipbl	UTSW	15	8,325,752 (GRCm38)	missense	probably benign	0.06
R7958:Nipbl	UTSW	15	8,311,258 (GRCm38)	missense	possibly damaging	0.91
R8077:Nipbl	UTSW	15	8,311,250 (GRCm38)	missense	possibly damaging	0.49
R8119:Nipbl	UTSW	15	8,359,212 (GRCm38)	missense	probably benign	0.22
R8355:Nipbl	UTSW	15	8,335,044 (GRCm38)	missense	probably damaging	0.98
R8441:Nipbl	UTSW	15	8,293,115 (GRCm38)	missense	probably benign	0.00
R8455:Nipbl	UTSW	15	8,335,044 (GRCm38)	missense	probably damaging	0.98
R8717:Nipbl	UTSW	15	8,338,741 (GRCm38)	missense	probably benign
R8739:Nipbl	UTSW	15	8,303,420 (GRCm38)	missense	probably benign	0.08
R8854:Nipbl	UTSW	15	8,300,726 (GRCm38)	missense	probably damaging	1.00
R8887:Nipbl	UTSW	15	8,361,787 (GRCm38)	missense	probably damaging	1.00
R8942:Nipbl	UTSW	15	8,351,620 (GRCm38)	missense	probably benign
R8991:Nipbl	UTSW	15	8,291,513 (GRCm38)	missense	probably damaging	1.00
R9008:Nipbl	UTSW	15	8,327,124 (GRCm38)	missense	probably damaging	1.00
R9070:Nipbl	UTSW	15	8,338,731 (GRCm38)	missense	possibly damaging	0.82
R9116:Nipbl	UTSW	15	8,350,856 (GRCm38)	missense	probably benign	0.00
R9622:Nipbl	UTSW	15	8,336,889 (GRCm38)	missense	probably benign	0.27
R9778:Nipbl	UTSW	15	8,291,548 (GRCm38)	missense	probably benign	0.10
RF020:Nipbl	UTSW	15	8,358,934 (GRCm38)	missense	probably damaging	0.98
X0022:Nipbl	UTSW	15	8,351,715 (GRCm38)	missense	probably benign	0.05
X0027:Nipbl	UTSW	15	8,323,537 (GRCm38)	missense	probably damaging	1.00
Z1088:Nipbl	UTSW	15	8,307,882 (GRCm38)	missense	probably damaging	1.00
Z1176:Nipbl	UTSW	15	8,338,699 (GRCm38)	missense	possibly damaging	0.88
Z1177:Nipbl	UTSW	15	8,338,680 (GRCm38)	critical splice donor site	probably null
Z1177:Nipbl	UTSW	15	8,336,952 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-06-21