Mutagenetix > Incidental Mutation

Incidental Mutation 'R0471:Nip7'

46762

Institutional Source

Beutler Lab

Gene Symbol

Nip7

Ensembl Gene

ENSMUSG00000031917

Gene Name

NIP7, nucleolar pre-rRNA processing protein

Synonyms

1110017C15Rik, 6330509M23Rik

MMRRC Submission

038671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107783509-107787563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107783949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 63 (L63P)

Ref Sequence

ENSEMBL: ENSMUSP00000126153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034391] [ENSMUST00000034392] [ENSMUST00000034393] [ENSMUST00000095517] [ENSMUST00000170962]

AlphaFold

Q9CXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000034391

SMART Domains

Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:Dor1	56	394	7.6e-151	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000034392
AA Change: L63P

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

SMART Domains

Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917
AA Change: L63P

Domain	Start	End	E-Value	Type
PUA	95	170	4.36e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034393

SMART Domains

Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EMP24_GP25L	43	228	1.87e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095517

SMART Domains

Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:Dor1	56	394	7.6e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122903

Predicted Effect

probably benign
Transcript: ENSMUST00000134772

Predicted Effect

probably damaging
Transcript: ENSMUST00000170962
AA Change: L63P

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

SMART Domains

Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917
AA Change: L63P

Domain	Start	End	E-Value	Type
PDB:1T5Y\|A	1	133	7e-87	PDB
Blast:PUA	95	123	5e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212281

Meta Mutation Damage Score

0.9534

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Mice homozygous for en ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,075,891 (GRCm39)		probably null	Het
Adam33	C	A	2: 130,896,399 (GRCm39)	G437C	probably damaging	Het
Aldh1a1	T	A	19: 20,579,377 (GRCm39)	M1K	probably null	Het
Amotl2	C	A	9: 102,597,718 (GRCm39)	P126Q	probably damaging	Het
Ap1g1	T	A	8: 110,580,275 (GRCm39)	M576K	possibly damaging	Het
Apob	C	A	12: 8,040,406 (GRCm39)	A581E	probably damaging	Het
Asb7	A	T	7: 66,328,907 (GRCm39)	D44E	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C9orf72	G	A	4: 35,193,257 (GRCm39)	T232I	probably benign	Het
Ccdc65	A	T	15: 98,615,348 (GRCm39)	H118L	probably benign	Het
Cdc25b	A	G	2: 131,039,204 (GRCm39)	E523G	probably damaging	Het
Cdk11b	A	G	4: 155,731,999 (GRCm39)		probably benign	Het
Cilk1	G	T	9: 78,062,799 (GRCm39)		probably null	Het
Clec1b	A	G	6: 129,378,570 (GRCm39)		probably benign	Het
Cntrl	A	G	2: 35,017,392 (GRCm39)	T400A	probably benign	Het
Cpne4	T	G	9: 104,899,481 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,419,985 (GRCm39)	R249*	probably null	Het
Dock2	T	C	11: 34,579,380 (GRCm39)	I678V	probably benign	Het
Dqx1	C	T	6: 83,036,407 (GRCm39)		probably benign	Het
Dsp	A	T	13: 38,377,326 (GRCm39)	K1704*	probably null	Het
Eif2b2	T	C	12: 85,266,957 (GRCm39)	F121S	probably benign	Het
Ephx4	T	C	5: 107,561,379 (GRCm39)	V69A	possibly damaging	Het
Epn2	T	C	11: 61,426,134 (GRCm39)	Q281R	probably damaging	Het
Fgf3	A	C	7: 144,396,547 (GRCm39)	D187A	probably damaging	Het
Galnt18	C	A	7: 111,378,506 (GRCm39)		probably benign	Het
Gm4871	C	T	5: 144,968,402 (GRCm39)		probably benign	Het
Inpp4b	T	C	8: 82,768,528 (GRCm39)	I679T	possibly damaging	Het
Itpkb	A	G	1: 180,245,820 (GRCm39)	E779G	probably damaging	Het
Itsn1	G	A	16: 91,696,477 (GRCm39)	V27M	probably damaging	Het
Lrp2	C	A	2: 69,355,578 (GRCm39)	R422L	probably damaging	Het
Mmp25	G	A	17: 23,858,858 (GRCm39)	A231V	possibly damaging	Het
Mprip	T	C	11: 59,650,561 (GRCm39)	S1422P	probably damaging	Het
Mro	A	T	18: 74,009,860 (GRCm39)	Q176L	probably benign	Het
Mrpl12	A	G	11: 120,379,229 (GRCm39)	E192G	probably damaging	Het
Myo5b	A	T	18: 74,862,025 (GRCm39)		probably benign	Het
Ncam2	G	T	16: 80,997,772 (GRCm39)		probably benign	Het
Nsd3	T	C	8: 26,138,450 (GRCm39)		probably benign	Het
Nup98	A	T	7: 101,788,004 (GRCm39)	V1022D	probably benign	Het
Or2y1e	T	A	11: 49,218,744 (GRCm39)	C169S	probably damaging	Het
Or5d43	A	G	2: 88,104,559 (GRCm39)	V278A	possibly damaging	Het
Or5h22	A	G	16: 58,894,633 (GRCm39)	I270T	probably benign	Het
Or7g28	A	T	9: 19,272,177 (GRCm39)	L158*	probably null	Het
P4ha2	T	C	11: 54,008,434 (GRCm39)	Y214H	possibly damaging	Het
Pacrg	A	T	17: 10,795,407 (GRCm39)	F184L	possibly damaging	Het
Parpbp	T	A	10: 87,929,569 (GRCm39)	R426S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,359 (GRCm39)	Y246*	probably null	Het
Pik3cg	T	A	12: 32,244,770 (GRCm39)	T895S	probably damaging	Het
Prkch	T	C	12: 73,738,426 (GRCm39)	Y178H	probably benign	Het
Rusc2	G	T	4: 43,425,486 (GRCm39)	R1197L	probably damaging	Het
Svep1	T	C	4: 58,054,700 (GRCm39)	E3296G	possibly damaging	Het
Svs3a	A	G	2: 164,131,801 (GRCm39)	K123R	probably benign	Het
Sycp2l	A	G	13: 41,304,006 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,909,685 (GRCm39)	H717R	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,892,130 (GRCm39)	V151G	possibly damaging	Het
Trim33	T	C	3: 103,234,217 (GRCm39)	V56A	possibly damaging	Het
Trim67	C	A	8: 125,521,397 (GRCm39)	T253K	probably benign	Het
Trip12	T	C	1: 84,703,928 (GRCm39)	E698G	probably damaging	Het
Tspan14	T	C	14: 40,637,353 (GRCm39)	D145G	probably damaging	Het
Ushbp1	G	A	8: 71,847,021 (GRCm39)	Q204*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,721 (GRCm39)	N257K	probably benign	Het
Washc4	T	C	10: 83,394,598 (GRCm39)		probably benign	Het
Zc3h7b	G	A	15: 81,666,169 (GRCm39)	D560N	probably damaging	Het
Zscan21	T	C	5: 138,123,402 (GRCm39)	V27A	probably benign	Het
Zzef1	A	C	11: 72,813,937 (GRCm39)	E2842A	probably damaging	Het

Other mutations in Nip7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Nip7	APN	8	107,783,802 (GRCm39)	missense	possibly damaging	0.86
IGL01827:Nip7	APN	8	107,783,723 (GRCm39)	critical splice acceptor site	probably null
IGL02543:Nip7	APN	8	107,784,825 (GRCm39)	intron	probably benign
R0841:Nip7	UTSW	8	107,784,007 (GRCm39)	missense	probably benign	0.11
R1750:Nip7	UTSW	8	107,784,018 (GRCm39)	missense	probably damaging	1.00
R1759:Nip7	UTSW	8	107,784,767 (GRCm39)	missense	probably benign	0.00
R5121:Nip7	UTSW	8	107,783,589 (GRCm39)	missense	possibly damaging	0.88
R6306:Nip7	UTSW	8	107,785,055 (GRCm39)	missense	probably damaging	1.00
R7338:Nip7	UTSW	8	107,783,916 (GRCm39)	missense	possibly damaging	0.80
R7459:Nip7	UTSW	8	107,783,968 (GRCm39)	nonsense	probably null
R7682:Nip7	UTSW	8	107,783,751 (GRCm39)	missense	possibly damaging	0.88
R7738:Nip7	UTSW	8	107,783,997 (GRCm39)	missense	probably damaging	1.00
R8549:Nip7	UTSW	8	107,784,605 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCAGCATCGGAGAGAACCTTCAAC -3'
(R):5'- AAAGAATCTGTGCTCTGACCTGGC -3'

Sequencing Primer
(F):5'- GGAGAGAACCTTCAACTCCTAGTG -3'
(R):5'- TAATCCAGAGCTGTCACGTG -3'

Posted On

2013-06-11