Mutagenetix > Incidental Mutation

Incidental Mutation 'R6267:Nipbl'

507111

Institutional Source

Beutler Lab

Gene Symbol

Nipbl

Ensembl Gene

ENSMUSG00000022141

Gene Name

NIPBL cohesin loading factor

Synonyms

4921518A06Rik, 4933421G18Rik

MMRRC Submission

044405-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8290617-8444463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8300895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 2349 (M2349V)

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: M2349V

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: M2349V

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683 (GRCm38)	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754 (GRCm38)	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100 (GRCm38)	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,594,497 (GRCm38)	T341A	probably damaging	Het
Acer2	T	C	4: 86,874,586 (GRCm38)	F33S	probably damaging	Het
Actr1b	A	G	1: 36,701,163 (GRCm38)	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,791,180 (GRCm38)		probably null	Het
Atm	A	C	9: 53,444,000 (GRCm38)	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,906,892 (GRCm38)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723 (GRCm38)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714 (GRCm38)	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,529,599 (GRCm38)		probably null	Het
Cbll1	A	G	12: 31,487,508 (GRCm38)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369 (GRCm38)	V132I	probably benign	Het
Chd2	T	C	7: 73,463,671 (GRCm38)	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,129,793 (GRCm38)	L544P	probably damaging	Het
Cryga	A	C	1: 65,103,010 (GRCm38)	S75A	probably benign	Het
Dcbld1	T	A	10: 52,319,480 (GRCm38)	Y261*	probably null	Het
Ddx11	G	A	17: 66,150,729 (GRCm38)		probably null	Het
Dgke	C	T	11: 89,040,749 (GRCm38)	V560I	probably benign	Het
Dst	A	C	1: 34,228,672 (GRCm38)	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,720,493 (GRCm38)		probably null	Het
Eif4enif1	T	A	11: 3,227,793 (GRCm38)	V395E	probably damaging	Het
Enox1	A	G	14: 77,577,764 (GRCm38)	T121A	probably damaging	Het
Enpp4	G	T	17: 44,102,480 (GRCm38)	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155 (GRCm38)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403 (GRCm38)	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145 (GRCm38)	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,448,324 (GRCm38)	G448E	probably damaging	Het
Galntl5	T	C	5: 25,186,165 (GRCm38)	S21P	probably benign	Het
Garnl3	T	C	2: 33,104,880 (GRCm38)	D39G	probably benign	Het
Gm14295	C	T	2: 176,808,989 (GRCm38)	Q91*	probably null	Het
Grb10	T	A	11: 11,970,639 (GRCm38)		probably benign	Het
Grip1	C	T	10: 120,075,464 (GRCm38)	Q696*	probably null	Het
Herc2	T	G	7: 56,204,718 (GRCm38)	L3797R	possibly damaging	Het
Herc2	T	A	7: 56,153,166 (GRCm38)	C2112*	probably null	Het
Ighm	T	C	12: 113,421,567 (GRCm38)	I258V	unknown	Het
Jarid2	T	A	13: 44,903,063 (GRCm38)	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,738,634 (GRCm38)	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,665,419 (GRCm38)	R161*	probably null	Het
Lingo4	G	A	3: 94,403,390 (GRCm38)	G545E	probably benign	Het
Lmo2	T	G	2: 103,970,601 (GRCm38)	V39G	possibly damaging	Het
Lor	C	A	3: 92,081,812 (GRCm38)	G56*	probably null	Het
Lrfn1	A	G	7: 28,459,744 (GRCm38)	R363G	probably benign	Het
Lrp1b	T	C	2: 40,657,525 (GRCm38)	D446G	probably benign	Het
Ltbp1	G	T	17: 75,005,989 (GRCm38)	G35V	possibly damaging	Het
Magel2	G	A	7: 62,378,679 (GRCm38)	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm38)		probably null	Het
Ms4a7	A	T	19: 11,333,295 (GRCm38)	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,616,991 (GRCm38)	Y173C	probably damaging	Het
Nek1	C	T	8: 61,072,309 (GRCm38)	Q594*	probably null	Het
Nmnat2	A	T	1: 153,076,971 (GRCm38)	H102L	probably damaging	Het
Nup155	T	A	15: 8,153,155 (GRCm38)	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631 (GRCm38)	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596 (GRCm38)	R311S	probably benign	Het
Olfr686	G	A	7: 105,203,392 (GRCm38)	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,819,503 (GRCm38)		probably null	Het
Pcnt	A	G	10: 76,385,798 (GRCm38)	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,226,266 (GRCm38)	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,110,522 (GRCm38)	L781P	probably damaging	Het
Prdm14	A	T	1: 13,118,936 (GRCm38)	C395S	probably damaging	Het
Prmt8	A	G	6: 127,711,804 (GRCm38)	I201T	probably damaging	Het
Pter	T	C	2: 12,978,541 (GRCm38)	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829 (GRCm38)		probably null	Het
Rgs9	T	C	11: 109,268,987 (GRCm38)	N173S	probably benign	Het
Rorb	C	A	19: 18,977,857 (GRCm38)	V47L	possibly damaging	Het
Rtn4r	A	G	16: 18,151,182 (GRCm38)	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162 (GRCm38)	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,093,880 (GRCm38)	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793 (GRCm38)	M668I	probably benign	Het
Slc52a3	G	T	2: 152,007,609 (GRCm38)		probably null	Het
Smco1	A	T	16: 32,274,014 (GRCm38)	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,728,464 (GRCm38)	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757 (GRCm38)	S857P	probably damaging	Het
Stk35	T	A	2: 129,810,888 (GRCm38)	Y436*	probably null	Het
Tmem225	T	A	9: 40,148,435 (GRCm38)	I37N	probably damaging	Het
Unkl	T	C	17: 25,231,865 (GRCm38)	*232R	probably null	Het
Usp16	A	G	16: 87,483,191 (GRCm38)	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,350,296 (GRCm38)	*308C	probably null	Het
Vmn2r45	A	G	7: 8,472,208 (GRCm38)	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,928,635 (GRCm38)		probably null	Het
Wnk4	A	T	11: 101,273,998 (GRCm38)	N718Y	probably damaging	Het
Zfp503	G	C	14: 21,985,800 (GRCm38)	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103 (GRCm38)	F557Y	possibly damaging	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
IGL01087:Nipbl	APN	15	8,350,497 (GRCm38)	missense	possibly damaging	0.67
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAAAGGCGCGTCTGTGTTG -3'
(R):5'- GTGACAGTTCAGGAGGCATG -3'

Sequencing Primer
(F):5'- CTGTGTTGGCGGTTCCC -3'
(R):5'- CAGACACTACTGTAACCTTGGTTAGC -3'

Posted On

2018-03-15