Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Nipbl'

357432

Institutional Source

Beutler Lab

Gene Symbol

Nipbl

Ensembl Gene

ENSMUSG00000022141

Gene Name

NIPBL cohesin loading factor

Synonyms

4933421G18Rik, 4921518A06Rik

MMRRC Submission

041969-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8320101-8473947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8395313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 191 (H191Q)

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: H191Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: H191Q

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Adgra2	A	G	8: 27,604,225 (GRCm39)	K472E	probably damaging	Het
Akap9	A	G	5: 4,018,737 (GRCm39)	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,232,551 (GRCm39)	E1367G	possibly damaging	Het
Arsi	A	T	18: 61,050,533 (GRCm39)	Y472F	probably benign	Het
Asxl3	A	G	18: 22,649,826 (GRCm39)	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 87,252,135 (GRCm39)	D88N	probably benign	Het
BC061237	T	A	14: 44,743,469 (GRCm39)	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
C9	G	A	15: 6,519,311 (GRCm39)	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Ccna2	T	C	3: 36,620,391 (GRCm39)	S421G	probably benign	Het
Cflar	T	G	1: 58,779,431 (GRCm39)	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,267,131 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,315,732 (GRCm39)	F1342L	unknown	Het
Colq	C	T	14: 31,251,472 (GRCm39)	R313H	possibly damaging	Het
Coro6	A	G	11: 77,359,974 (GRCm39)	E345G	probably damaging	Het
Cracd	T	C	5: 77,006,681 (GRCm39)	V1014A	unknown	Het
Cyb561	A	G	11: 105,826,708 (GRCm39)	F182L	probably benign	Het
Dap3	A	G	3: 88,833,617 (GRCm39)	S317P	probably benign	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,579,888 (GRCm39)	E31G	possibly damaging	Het
Dsn1	G	A	2: 156,843,660 (GRCm39)	L147F	probably damaging	Het
Dysf	T	C	6: 84,043,990 (GRCm39)	V277A	probably damaging	Het
Eprs1	T	A	1: 185,128,327 (GRCm39)	I569K	probably damaging	Het
Erg	T	C	16: 95,162,029 (GRCm39)	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,166,409 (GRCm39)	D247N	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Foxn4	T	C	5: 114,393,628 (GRCm39)	D497G	probably damaging	Het
Fsip2	A	G	2: 82,819,629 (GRCm39)	I5121V	probably benign	Het
Gcn1	T	A	5: 115,752,461 (GRCm39)	D2155E	probably benign	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,004,887 (GRCm39)	V296A	probably benign	Het
Grid1	T	A	14: 35,302,644 (GRCm39)	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,057,370 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,649,931 (GRCm39)	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,537,672 (GRCm39)	V211A	probably damaging	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Ifi208	T	A	1: 173,523,180 (GRCm39)	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,727 (GRCm39)	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,072,487 (GRCm39)	Y64*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Map3k10	T	C	7: 27,357,786 (GRCm39)	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,007,798 (GRCm39)	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,868,973 (GRCm39)	E293G	possibly damaging	Het
Med21	T	A	6: 146,551,599 (GRCm39)		probably null	Het
Mettl18	T	C	1: 163,824,354 (GRCm39)	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,169 (GRCm39)	I432F	probably damaging	Het
Muc5b	T	G	7: 141,415,185 (GRCm39)	Y2710*	probably null	Het
Neurl4	A	T	11: 69,801,894 (GRCm39)	I1282F	probably benign	Het
Nktr	A	G	9: 121,570,759 (GRCm39)	D167G	probably damaging	Het
Nrap	A	G	19: 56,368,669 (GRCm39)	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,351,526 (GRCm39)	T297A	probably benign	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or1e1	G	A	11: 73,245,322 (GRCm39)	V248M	probably damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or4k6	A	G	14: 50,476,190 (GRCm39)	S51P	probably damaging	Het
Or5b24	C	T	19: 12,912,581 (GRCm39)	H160Y	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Pcnx2	T	C	8: 126,614,327 (GRCm39)	S375G	probably damaging	Het
Pgap6	T	C	17: 26,335,757 (GRCm39)	F48S	probably damaging	Het
Phf2	A	T	13: 48,975,185 (GRCm39)		probably null	Het
Piezo1	A	T	8: 123,213,678 (GRCm39)	M1739K	possibly damaging	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Pml	C	T	9: 58,141,935 (GRCm39)	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,574,130 (GRCm39)	M236K	probably damaging	Het
Prkch	T	A	12: 73,739,734 (GRCm39)	C203S	probably damaging	Het
Prob1	C	T	18: 35,785,869 (GRCm39)	R795H	possibly damaging	Het
Prr22	G	C	17: 57,078,274 (GRCm39)	E142D	possibly damaging	Het
Prss56	C	A	1: 87,113,305 (GRCm39)	A211E	possibly damaging	Het
Qser1	A	C	2: 104,617,649 (GRCm39)	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,720,694 (GRCm39)		probably null	Het
Rhot2	C	A	17: 26,063,248 (GRCm39)	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,267,249 (GRCm39)	T945M	probably damaging	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,231,767 (GRCm39)	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,198,796 (GRCm39)	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc4a11	C	A	2: 130,532,787 (GRCm39)	R222L	probably damaging	Het
Slc7a10	C	T	7: 34,900,187 (GRCm39)	P502S	probably damaging	Het
Sort1	T	G	3: 108,263,639 (GRCm39)	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,289,832 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,913,876 (GRCm39)	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Topors	A	T	4: 40,261,015 (GRCm39)	S756R	unknown	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Ube2o	T	C	11: 116,432,734 (GRCm39)	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,640,013 (GRCm39)	I197V	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	probably damaging	Het

Other mutations in Nipbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Nipbl	APN	15	8,396,157 (GRCm39)	missense	probably damaging	0.98
IGL00712:Nipbl	APN	15	8,398,958 (GRCm39)	missense	probably damaging	0.97
IGL00789:Nipbl	APN	15	8,326,353 (GRCm39)	missense	probably damaging	1.00
IGL01025:Nipbl	APN	15	8,379,939 (GRCm39)	missense	possibly damaging	0.46
IGL01087:Nipbl	APN	15	8,379,981 (GRCm39)	missense	possibly damaging	0.67
IGL01474:Nipbl	APN	15	8,340,693 (GRCm39)	missense	possibly damaging	0.63
IGL01537:Nipbl	APN	15	8,380,023 (GRCm39)	missense	probably benign
IGL01723:Nipbl	APN	15	8,364,555 (GRCm39)	missense	possibly damaging	0.71
IGL01749:Nipbl	APN	15	8,391,305 (GRCm39)	missense	probably benign	0.13
IGL02398:Nipbl	APN	15	8,356,574 (GRCm39)	missense	probably damaging	1.00
IGL02437:Nipbl	APN	15	8,388,558 (GRCm39)	missense	probably damaging	1.00
IGL02450:Nipbl	APN	15	8,373,058 (GRCm39)	missense	probably damaging	0.99
IGL02477:Nipbl	APN	15	8,353,131 (GRCm39)	splice site	probably null
IGL02547:Nipbl	APN	15	8,381,082 (GRCm39)	missense	probably benign
IGL02678:Nipbl	APN	15	8,380,594 (GRCm39)	missense	possibly damaging	0.92
IGL02679:Nipbl	APN	15	8,325,037 (GRCm39)	missense	probably benign	0.34
IGL03003:Nipbl	APN	15	8,379,798 (GRCm39)	missense	probably damaging	1.00
IGL03117:Nipbl	APN	15	8,361,936 (GRCm39)	missense	probably damaging	1.00
IGL03162:Nipbl	APN	15	8,368,463 (GRCm39)	missense	probably benign	0.37
IGL03224:Nipbl	APN	15	8,322,569 (GRCm39)	missense	probably damaging	0.98
IGL03339:Nipbl	APN	15	8,380,360 (GRCm39)	missense	probably benign	0.12
R0346_Nipbl_297	UTSW	15	8,390,440 (GRCm39)	missense	probably damaging	0.99
R0347_Nipbl_476	UTSW	15	8,380,216 (GRCm39)	missense	probably benign
R3620_nipbl_616	UTSW	15	8,362,508 (GRCm39)	missense	probably damaging	0.99
R6388_Nipbl_651	UTSW	15	8,330,268 (GRCm39)	missense	probably damaging	0.99
R8441_Nipbl_224	UTSW	15	8,322,599 (GRCm39)	missense	probably benign	0.00
R0271:Nipbl	UTSW	15	8,391,221 (GRCm39)	missense	possibly damaging	0.76
R0346:Nipbl	UTSW	15	8,390,440 (GRCm39)	missense	probably damaging	0.99
R0347:Nipbl	UTSW	15	8,380,216 (GRCm39)	missense	probably benign
R0422:Nipbl	UTSW	15	8,381,112 (GRCm39)	missense	probably benign
R0486:Nipbl	UTSW	15	8,368,354 (GRCm39)	splice site	probably benign
R0652:Nipbl	UTSW	15	8,332,964 (GRCm39)	missense	probably benign	0.23
R0667:Nipbl	UTSW	15	8,390,488 (GRCm39)	missense	possibly damaging	0.86
R0689:Nipbl	UTSW	15	8,322,562 (GRCm39)	splice site	probably null
R0726:Nipbl	UTSW	15	8,381,039 (GRCm39)	missense	probably benign
R0881:Nipbl	UTSW	15	8,337,096 (GRCm39)	missense	probably damaging	0.98
R0904:Nipbl	UTSW	15	8,391,202 (GRCm39)	missense	probably benign
R0969:Nipbl	UTSW	15	8,321,712 (GRCm39)	missense	probably damaging	1.00
R1401:Nipbl	UTSW	15	8,401,657 (GRCm39)	missense	probably damaging	0.97
R1479:Nipbl	UTSW	15	8,379,773 (GRCm39)	missense	probably benign	0.00
R1495:Nipbl	UTSW	15	8,380,764 (GRCm39)	missense	probably benign	0.00
R1609:Nipbl	UTSW	15	8,396,148 (GRCm39)	missense	probably damaging	1.00
R1679:Nipbl	UTSW	15	8,332,396 (GRCm39)	missense	probably benign	0.31
R1756:Nipbl	UTSW	15	8,368,035 (GRCm39)	missense	possibly damaging	0.91
R1778:Nipbl	UTSW	15	8,348,972 (GRCm39)	missense	probably damaging	1.00
R1835:Nipbl	UTSW	15	8,373,001 (GRCm39)	missense	possibly damaging	0.80
R1883:Nipbl	UTSW	15	8,356,616 (GRCm39)	missense	probably damaging	1.00
R1914:Nipbl	UTSW	15	8,373,114 (GRCm39)	missense	possibly damaging	0.93
R1915:Nipbl	UTSW	15	8,373,114 (GRCm39)	missense	possibly damaging	0.93
R2030:Nipbl	UTSW	15	8,379,771 (GRCm39)	missense	probably damaging	1.00
R2046:Nipbl	UTSW	15	8,353,951 (GRCm39)	missense	probably benign	0.08
R2076:Nipbl	UTSW	15	8,340,691 (GRCm39)	missense	probably benign	0.11
R2163:Nipbl	UTSW	15	8,366,403 (GRCm39)	missense	probably damaging	0.99
R2170:Nipbl	UTSW	15	8,322,702 (GRCm39)	missense	probably damaging	1.00
R2425:Nipbl	UTSW	15	8,380,966 (GRCm39)	missense	probably benign	0.06
R2475:Nipbl	UTSW	15	8,364,490 (GRCm39)	missense	probably benign	0.05
R2484:Nipbl	UTSW	15	8,353,182 (GRCm39)	missense	probably damaging	0.99
R2970:Nipbl	UTSW	15	8,340,723 (GRCm39)	missense	probably damaging	1.00
R3116:Nipbl	UTSW	15	8,373,076 (GRCm39)	missense	probably benign	0.00
R3620:Nipbl	UTSW	15	8,362,508 (GRCm39)	missense	probably damaging	0.99
R3725:Nipbl	UTSW	15	8,325,145 (GRCm39)	missense	probably damaging	0.97
R3745:Nipbl	UTSW	15	8,388,358 (GRCm39)	missense	probably benign
R3902:Nipbl	UTSW	15	8,379,730 (GRCm39)	missense	possibly damaging	0.94
R3960:Nipbl	UTSW	15	8,380,018 (GRCm39)	missense	probably benign
R4164:Nipbl	UTSW	15	8,368,418 (GRCm39)	missense	probably benign	0.24
R4246:Nipbl	UTSW	15	8,361,916 (GRCm39)	missense	probably damaging	1.00
R4381:Nipbl	UTSW	15	8,388,690 (GRCm39)	missense	probably benign	0.00
R4394:Nipbl	UTSW	15	8,391,345 (GRCm39)	missense	probably benign	0.00
R4439:Nipbl	UTSW	15	8,368,208 (GRCm39)	missense	probably damaging	0.98
R4440:Nipbl	UTSW	15	8,396,142 (GRCm39)	missense	probably damaging	0.98
R4441:Nipbl	UTSW	15	8,396,142 (GRCm39)	missense	probably damaging	0.98
R4672:Nipbl	UTSW	15	8,332,468 (GRCm39)	missense	probably damaging	1.00
R5300:Nipbl	UTSW	15	8,380,981 (GRCm39)	missense	probably benign
R5428:Nipbl	UTSW	15	8,359,780 (GRCm39)	missense	probably benign	0.00
R5641:Nipbl	UTSW	15	8,396,196 (GRCm39)	missense	possibly damaging	0.93
R5643:Nipbl	UTSW	15	8,388,391 (GRCm39)	missense	probably benign
R5644:Nipbl	UTSW	15	8,388,391 (GRCm39)	missense	probably benign
R5681:Nipbl	UTSW	15	8,330,866 (GRCm39)	missense	probably benign	0.22
R5741:Nipbl	UTSW	15	8,354,133 (GRCm39)	missense	possibly damaging	0.47
R5899:Nipbl	UTSW	15	8,364,328 (GRCm39)	splice site	probably null
R5970:Nipbl	UTSW	15	8,326,302 (GRCm39)	missense	probably benign	0.27
R6041:Nipbl	UTSW	15	8,353,748 (GRCm39)	missense	probably damaging	1.00
R6059:Nipbl	UTSW	15	8,325,052 (GRCm39)	missense	probably damaging	1.00
R6213:Nipbl	UTSW	15	8,364,390 (GRCm39)	missense	probably damaging	1.00
R6216:Nipbl	UTSW	15	8,347,867 (GRCm39)	missense	probably damaging	0.99
R6236:Nipbl	UTSW	15	8,354,064 (GRCm39)	missense	possibly damaging	0.88
R6267:Nipbl	UTSW	15	8,330,379 (GRCm39)	missense	possibly damaging	0.46
R6296:Nipbl	UTSW	15	8,330,379 (GRCm39)	missense	possibly damaging	0.46
R6388:Nipbl	UTSW	15	8,330,268 (GRCm39)	missense	probably damaging	0.99
R6427:Nipbl	UTSW	15	8,381,049 (GRCm39)	missense	probably benign
R6707:Nipbl	UTSW	15	8,354,043 (GRCm39)	missense	probably benign	0.01
R6731:Nipbl	UTSW	15	8,352,074 (GRCm39)	missense	probably damaging	1.00
R6921:Nipbl	UTSW	15	8,332,969 (GRCm39)	missense	probably benign	0.28
R7239:Nipbl	UTSW	15	8,321,619 (GRCm39)	critical splice donor site	probably null
R7346:Nipbl	UTSW	15	8,373,090 (GRCm39)	missense	possibly damaging	0.94
R7485:Nipbl	UTSW	15	8,359,779 (GRCm39)	missense	probably benign	0.01
R7486:Nipbl	UTSW	15	8,325,120 (GRCm39)	missense	probably benign	0.25
R7598:Nipbl	UTSW	15	8,372,977 (GRCm39)	missense	probably benign	0.24
R7609:Nipbl	UTSW	15	8,335,356 (GRCm39)	missense	probably benign	0.27
R7674:Nipbl	UTSW	15	8,322,585 (GRCm39)	missense	probably benign	0.15
R7706:Nipbl	UTSW	15	8,381,010 (GRCm39)	missense	probably benign	0.01
R7760:Nipbl	UTSW	15	8,388,186 (GRCm39)	missense	probably damaging	1.00
R7766:Nipbl	UTSW	15	8,326,333 (GRCm39)	missense	probably benign	0.45
R7825:Nipbl	UTSW	15	8,320,971 (GRCm39)	missense	probably damaging	1.00
R7862:Nipbl	UTSW	15	8,355,236 (GRCm39)	missense	probably benign	0.06
R7958:Nipbl	UTSW	15	8,340,742 (GRCm39)	missense	possibly damaging	0.91
R8077:Nipbl	UTSW	15	8,340,734 (GRCm39)	missense	possibly damaging	0.49
R8119:Nipbl	UTSW	15	8,388,696 (GRCm39)	missense	probably benign	0.22
R8355:Nipbl	UTSW	15	8,364,528 (GRCm39)	missense	probably damaging	0.98
R8441:Nipbl	UTSW	15	8,322,599 (GRCm39)	missense	probably benign	0.00
R8455:Nipbl	UTSW	15	8,364,528 (GRCm39)	missense	probably damaging	0.98
R8717:Nipbl	UTSW	15	8,368,225 (GRCm39)	missense	probably benign
R8739:Nipbl	UTSW	15	8,332,904 (GRCm39)	missense	probably benign	0.08
R8854:Nipbl	UTSW	15	8,330,210 (GRCm39)	missense	probably damaging	1.00
R8887:Nipbl	UTSW	15	8,391,271 (GRCm39)	missense	probably damaging	1.00
R8942:Nipbl	UTSW	15	8,381,104 (GRCm39)	missense	probably benign
R8991:Nipbl	UTSW	15	8,320,997 (GRCm39)	missense	probably damaging	1.00
R9008:Nipbl	UTSW	15	8,356,608 (GRCm39)	missense	probably damaging	1.00
R9070:Nipbl	UTSW	15	8,368,215 (GRCm39)	missense	possibly damaging	0.82
R9116:Nipbl	UTSW	15	8,380,340 (GRCm39)	missense	probably benign	0.00
R9622:Nipbl	UTSW	15	8,366,373 (GRCm39)	missense	probably benign	0.27
R9778:Nipbl	UTSW	15	8,321,032 (GRCm39)	missense	probably benign	0.10
RF020:Nipbl	UTSW	15	8,388,418 (GRCm39)	missense	probably damaging	0.98
X0022:Nipbl	UTSW	15	8,381,199 (GRCm39)	missense	probably benign	0.05
X0027:Nipbl	UTSW	15	8,353,021 (GRCm39)	missense	probably damaging	1.00
Z1088:Nipbl	UTSW	15	8,337,366 (GRCm39)	missense	probably damaging	1.00
Z1176:Nipbl	UTSW	15	8,368,183 (GRCm39)	missense	possibly damaging	0.88
Z1177:Nipbl	UTSW	15	8,368,164 (GRCm39)	critical splice donor site	probably null
Z1177:Nipbl	UTSW	15	8,366,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAGTTAATTTGACAATGTGCAC -3'
(R):5'- GGATTGGTATCCTGAAATAGAATGG -3'

Sequencing Primer
(F):5'- tCACATGTTTGGAATTATAGTTT -3'
(R):5'- AATTGGAGTTCAAAGAATTTTGTCTC -3'

Posted On

2015-11-11