Mutagenetix > Incidental Mutation

Incidental Mutation 'R0841:Nip7'

77171

Institutional Source

Beutler Lab

Gene Symbol

Nip7

Ensembl Gene

ENSMUSG00000031917

Gene Name

NIP7, nucleolar pre-rRNA processing protein

Synonyms

1110017C15Rik, 6330509M23Rik

MMRRC Submission

039020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107783509-107787563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107784007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 82 (H82Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034392 (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 benign
Transcript: ENSMUST00000034392
AA Change: H82Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917
AA Change: H82Q

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 benign
Transcript: ENSMUST00000170962
AA Change: H82Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917
AA Change: H82Q

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

0.3372

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.1%

Validation Efficiency

94% (45/48)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	A	4: 73,860,986 (GRCm39)	M205L	probably benign	Het
Aass	A	T	6: 23,075,810 (GRCm39)	C776S	probably benign	Het
Abi3bp	T	C	16: 56,488,639 (GRCm39)	S1257P	possibly damaging	Het
Arhgap9	T	A	10: 127,165,508 (GRCm39)	M639K	probably damaging	Het
Ctsj	C	T	13: 61,150,357 (GRCm39)	S214N	probably damaging	Het
Dnali1	T	C	4: 124,959,340 (GRCm39)	S18G	possibly damaging	Het
Eif4g3	C	T	4: 137,893,129 (GRCm39)	T959M	probably damaging	Het
Eml3	G	A	19: 8,915,049 (GRCm39)	M635I	probably benign	Het
Eml6	A	G	11: 29,727,430 (GRCm39)	F1231L	probably benign	Het
Fat4	A	C	3: 39,050,147 (GRCm39)	K4003T	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgfr2	G	A	7: 129,863,635 (GRCm39)	P4S	probably benign	Het
Fgfr2	T	C	7: 130,373,737 (GRCm39)		probably benign	Het
Glp1r	T	C	17: 31,138,406 (GRCm39)	V160A	probably benign	Het
Gm9726	C	T	12: 93,895,054 (GRCm39)		noncoding transcript	Het
Gm9956	C	A	10: 56,621,424 (GRCm39)	L29M	unknown	Het
Gm9956	T	A	10: 56,621,425 (GRCm39)	L29Q	unknown	Het
Hddc3	T	A	7: 79,995,401 (GRCm39)	S139T	probably benign	Het
Hmcn1	A	T	1: 150,555,358 (GRCm39)		probably null	Het
Inpp5k	T	C	11: 75,524,285 (GRCm39)		probably benign	Het
Kcnq1	A	G	7: 142,661,189 (GRCm39)	K32E	probably benign	Het
Krtdap	A	T	7: 30,488,975 (GRCm39)		probably benign	Het
Ldb2	A	G	5: 44,690,016 (GRCm39)	L201P	probably damaging	Het
Mdn1	T	C	4: 32,752,032 (GRCm39)	V4590A	probably benign	Het
Odad2	G	T	18: 7,268,436 (GRCm39)	P361Q	probably damaging	Het
Or52l1	A	T	7: 104,830,061 (GRCm39)	V168E	probably damaging	Het
Otud6b	T	A	4: 14,812,532 (GRCm39)	T272S	probably benign	Het
Plxna1	A	G	6: 89,309,186 (GRCm39)	V1131A	probably damaging	Het
Prl7a1	T	A	13: 27,826,393 (GRCm39)		probably benign	Het
Sipa1	C	A	19: 5,704,835 (GRCm39)	A587S	probably benign	Het
Slc17a6	A	T	7: 51,275,063 (GRCm39)	I41F	probably benign	Het
Slc43a2	T	A	11: 75,457,815 (GRCm39)	Y363*	probably null	Het
Smg1	A	T	7: 117,742,524 (GRCm39)	L3230Q	possibly damaging	Het
Snapc1	C	T	12: 74,021,780 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,121,209 (GRCm39)		probably benign	Het
Tap2	C	A	17: 34,434,914 (GRCm39)	D652E	possibly damaging	Het
Trp53rkb	T	C	2: 166,637,430 (GRCm39)	C129R	probably benign	Het
Ugt2a2	T	C	5: 87,622,648 (GRCm39)	T317A	probably benign	Het
Ugt3a1	G	A	15: 9,306,214 (GRCm39)	S121N	probably benign	Het
Unc80	T	C	1: 66,511,247 (GRCm39)	V85A	probably damaging	Het
Vmn2r71	A	G	7: 85,267,749 (GRCm39)	T68A	possibly damaging	Het
Zfp7	G	A	15: 76,775,704 (GRCm39)	C582Y	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
R0471:Nip7	UTSW	8	107,783,949 (GRCm39)	missense	probably damaging	1.00
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'- TTAGGCTGACGCTGTCCAGAAAC -3'

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

Posted On

2013-10-16