Mutagenetix > Incidental Mutation

Incidental Mutation 'R9622:Nipbl'

724898

Institutional Source

Beutler Lab

Gene Symbol

Nipbl

Ensembl Gene

ENSMUSG00000022141

Gene Name

NIPBL cohesin loading factor

Synonyms

4933421G18Rik, 4921518A06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8320101-8473947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8366373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1239 (S1239T)

Ref Sequence

ENSEMBL: ENSMUSP00000059385 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052965
AA Change: S1239T

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000059385
Gene: ENSMUSG00000022141
AA Change: S1239T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	G	5: 36,006,889 (GRCm39)	K435E	probably damaging	Het
Acly	T	C	11: 100,395,785 (GRCm39)	T412A	probably damaging	Het
Aldh3b2	T	A	19: 4,029,489 (GRCm39)	D287E	probably benign	Het
Asphd1	G	A	7: 126,547,974 (GRCm39)	P110S		Het
Atg7	T	C	6: 114,654,993 (GRCm39)	L142P	probably benign	Het
Atp13a4	T	C	16: 29,239,277 (GRCm39)	I796V		Het
Bbx	A	G	16: 50,095,022 (GRCm39)	V98A	probably damaging	Het
Brca2	T	C	5: 150,480,410 (GRCm39)	S2727P	probably damaging	Het
Camk1	T	A	6: 113,318,850 (GRCm39)	D21V	possibly damaging	Het
Cdc5l	A	T	17: 45,715,709 (GRCm39)	D634E	probably benign	Het
Cfap418	T	C	4: 10,893,304 (GRCm39)	I141T	possibly damaging	Het
Cyfip1	A	T	7: 55,528,853 (GRCm39)	D275V	possibly damaging	Het
Cyp4a30b	A	G	4: 115,328,162 (GRCm39)	E477G	probably damaging	Het
Cyp4f16	C	T	17: 32,769,246 (GRCm39)	P379S	probably damaging	Het
Dchs2	C	T	3: 83,263,766 (GRCm39)	Q3345*	probably null	Het
Dnaaf1	A	G	8: 120,315,001 (GRCm39)	T270A	possibly damaging	Het
Dnah3	A	G	7: 119,561,356 (GRCm39)	V334A		Het
Dnhd1	T	C	7: 105,353,342 (GRCm39)	F2832L	probably benign	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Eif4enif1	T	C	11: 3,165,714 (GRCm39)	I97T	probably benign	Het
Elmo1	C	G	13: 20,392,310 (GRCm39)	P29A	probably benign	Het
Erich6	G	C	3: 58,544,162 (GRCm39)	P142A	possibly damaging	Het
Fam135b	T	C	15: 71,397,686 (GRCm39)	R125G	probably damaging	Het
Fcrla	T	A	1: 170,749,808 (GRCm39)	H83L	probably damaging	Het
Flt3	C	T	5: 147,303,841 (GRCm39)	E366K	possibly damaging	Het
Gabbr2	C	T	4: 46,724,283 (GRCm39)		probably null	Het
Gigyf1	T	A	5: 137,522,926 (GRCm39)	L809*	probably null	Het
Glg1	C	T	8: 111,899,133 (GRCm39)	G711R	probably damaging	Het
Gp1bb	T	C	16: 18,439,527 (GRCm39)	E189G	probably benign	Het
H2-Q1	A	T	17: 35,542,532 (GRCm39)	I326F	probably benign	Het
Hoxb3	A	T	11: 96,235,420 (GRCm39)	K116*	probably null	Het
Kcnb1	T	C	2: 167,030,161 (GRCm39)	Y128C	probably damaging	Het
Kif5b	G	A	18: 6,225,672 (GRCm39)	R171C	probably damaging	Het
Lcn4	G	A	2: 26,561,228 (GRCm39)	Q18*	probably null	Het
Lrp1b	G	A	2: 40,779,354 (GRCm39)	Q2677*	probably null	Het
Map4k3	T	A	17: 80,958,538 (GRCm39)	T145S	probably damaging	Het
Mas1	T	C	17: 13,060,898 (GRCm39)	E175G	probably benign	Het
Metap2	T	C	10: 93,707,366 (GRCm39)	T202A	probably benign	Het
Mras	A	T	9: 99,275,054 (GRCm39)	M131K	probably benign	Het
Mtor	T	C	4: 148,568,169 (GRCm39)	V1092A	probably damaging	Het
Mug2	T	C	6: 122,028,751 (GRCm39)	S582P	probably benign	Het
Myo5b	A	G	18: 74,848,017 (GRCm39)	N1085S	probably damaging	Het
Nav3	T	C	10: 109,603,103 (GRCm39)	T1149A	probably benign	Het
Nkpd1	C	A	7: 19,257,867 (GRCm39)	R549S	probably benign	Het
Or10a3m	T	A	7: 108,312,677 (GRCm39)	M39K	probably benign	Het
Or10p1	G	A	10: 129,444,084 (GRCm39)	H89Y	probably benign	Het
Or1j1	A	G	2: 36,702,621 (GRCm39)	L161P	probably damaging	Het
Or51i2	T	A	7: 103,689,522 (GRCm39)	V173D	probably damaging	Het
Pcdh18	T	C	3: 49,711,229 (GRCm39)	N29D	probably benign	Het
Pdzrn4	T	C	15: 92,294,949 (GRCm39)	W52R	probably benign	Het
Plekhb1	T	C	7: 100,304,588 (GRCm39)	K39E	probably damaging	Het
Pramel28	A	G	4: 143,692,348 (GRCm39)	S218P	probably benign	Het
Psmb4	C	A	3: 94,792,285 (GRCm39)	E212D	probably benign	Het
Rcc1l	A	G	5: 134,205,348 (GRCm39)	L69P	probably damaging	Het
Robo2	T	C	16: 73,729,952 (GRCm39)	R1082G	probably benign	Het
Rorb	T	C	19: 18,955,115 (GRCm39)	Y167C	probably damaging	Het
Sanbr	T	A	11: 23,534,590 (GRCm39)	K589I	probably damaging	Het
Sbsn	GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG	GG	7: 30,452,067 (GRCm39)		probably benign	Het
Scaf8	T	A	17: 3,248,170 (GRCm39)	F1164L	probably benign	Het
Scn10a	A	T	9: 119,438,046 (GRCm39)	M1940K	probably benign	Het
Serpinb2	A	G	1: 107,452,298 (GRCm39)	N292S	probably benign	Het
Sparcl1	C	A	5: 104,234,998 (GRCm39)	V506L	possibly damaging	Het
Stt3a	A	G	9: 36,661,025 (GRCm39)	V262A	possibly damaging	Het
Syt17	C	A	7: 118,036,191 (GRCm39)	M58I	probably benign	Het
Tas2r134	A	C	2: 51,518,358 (GRCm39)	N279T	possibly damaging	Het
Tbc1d2	T	C	4: 46,609,065 (GRCm39)	E724G	probably damaging	Het
Teddm1b	T	A	1: 153,750,620 (GRCm39)	L143Q		Het
Tlk1	T	A	2: 70,617,281 (GRCm39)	R66S	probably damaging	Het
Tmem139	A	T	6: 42,240,176 (GRCm39)		probably null	Het
Tom1l2	T	C	11: 60,151,942 (GRCm39)	Y155C	possibly damaging	Het
Trmt1l	C	A	1: 151,304,710 (GRCm39)	S28*	probably null	Het
Ttf2	T	C	3: 100,859,918 (GRCm39)	I679V	probably benign	Het
Unc13b	T	G	4: 43,172,513 (GRCm39)	F1114V		Het
Vmn2r25	T	A	6: 123,816,579 (GRCm39)	D334V	probably damaging	Het
Vps13c	T	G	9: 67,856,715 (GRCm39)	Y2581D	probably damaging	Het
Xkr5	A	G	8: 18,984,247 (GRCm39)	S432P	probably benign	Het
Zc2hc1b	G	A	10: 13,043,677 (GRCm39)	P73S	possibly damaging	Het
Zfhx2	A	C	14: 55,303,483 (GRCm39)	F1500L	probably benign	Het
Zfp3	T	G	11: 70,662,739 (GRCm39)	S233A	possibly damaging	Het
Zmat5	T	C	11: 4,687,453 (GRCm39)	W169R	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
R4749:Nipbl	UTSW	15	8,395,313 (GRCm39)	missense	possibly damaging	0.95
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
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'- AATCCATTCTTCTGTCAATGCACAC -3'
(R):5'- GACTTGTGTCATCCCTGCTG -3'

Sequencing Primer
(F):5'- CTGTCAATGCACACATAATTTTGG -3'
(R):5'- CGTGTGGTTTACAGAACTCTGAAAC -3'

Posted On

2022-09-12