Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Nit1'

103718

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nit1

Ensembl Gene

ENSMUSG00000013997

Gene Name

nitrilase 1

Synonyms

ESTM30

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

171168139-171173224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171170262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 270 (V270A)

Ref Sequence

ENSEMBL: ENSMUSP00000106926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000064950] [ENSMUST00000097467] [ENSMUST00000111289] [ENSMUST00000111295] [ENSMUST00000111296] [ENSMUST00000111299] [ENSMUST00000148339] [ENSMUST00000129116] [ENSMUST00000111300] [ENSMUST00000135150] [ENSMUST00000156856] [ENSMUST00000135941] [ENSMUST00000142063] [ENSMUST00000157015] [ENSMUST00000127830]

AlphaFold

Q8VDK1

Predicted Effect

probably benign
Transcript: ENSMUST00000006579

SMART Domains

Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Prefoldin_2	18	93	3e-24	PFAM
low complexity region	102	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064950

SMART Domains

Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097467

SMART Domains

Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111289
AA Change: V237A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106920
Gene: ENSMUSG00000013997
AA Change: V237A

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	11	191	1.6e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111295
AA Change: V270A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106926
Gene: ENSMUSG00000013997
AA Change: V270A

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	44	224	6.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111296

SMART Domains

Protein: ENSMUSP00000106927
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	44	224	1.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111299

SMART Domains

Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141357

Predicted Effect

probably benign
Transcript: ENSMUST00000148339

SMART Domains

Protein: ENSMUSP00000119171
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	11	87	8.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129116

SMART Domains

Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111300

SMART Domains

Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135150

Predicted Effect

probably benign
Transcript: ENSMUST00000156856

SMART Domains

Protein: ENSMUSP00000116835
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	11	131	5.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135941

SMART Domains

Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:Prefoldin_2	24	129	3.3e-32	PFAM
low complexity region	139	150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142063

SMART Domains

Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000157015

Predicted Effect

probably benign
Transcript: ENSMUST00000127830

SMART Domains

Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-out allele exhibit increased incidence of N-nitrosomethylbenzylamine (NMBA)-induced tumors in the forestomach (papillomas and dysplasias). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	Het

Other mutations in Nit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4826:Nit1	UTSW	1	171,173,166 (GRCm39)	utr 5 prime	probably benign
R4884:Nit1	UTSW	1	171,171,263 (GRCm39)	missense	probably null	0.65
R6855:Nit1	UTSW	1	171,171,130 (GRCm39)	missense	probably damaging	0.98
R7196:Nit1	UTSW	1	171,172,003 (GRCm39)	missense	probably benign	0.00
R9709:Nit1	UTSW	1	171,171,307 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21