Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02676:Nif3l1'

303160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nif3l1

Ensembl Gene

ENSMUSG00000026036

Gene Name

Ngg1 interacting factor 3-like 1 (S. pombe)

Synonyms

1110030G24Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

IGL02676

Quality Score

Status

Chromosome

Chromosomal Location

58484310-58501435 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 58494895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000171597]

AlphaFold

Q9EQ80

Predicted Effect

probably null
Transcript: ENSMUST00000087521

SMART Domains

Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	363	1.9e-82	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114337

SMART Domains

Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	324	4e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140723

Predicted Effect

probably null
Transcript: ENSMUST00000171597

SMART Domains

Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	363	2.5e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188295

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the NGG1-interacting factor 3-like superfamily of transcriptional regulators and is ubiquitously expressed throughout embryonic development. The encoded protein interacts with a component of the constitutive photomorphogenesis 9 signalosome, and functions as a transcriptional corepressor of genes involved in neuronal differentiation. This gene is highly conserved from bacteria to human. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	G	A	18: 34,448,687 (GRCm39)	S1827N	probably damaging	Het
Atrnl1	T	A	19: 57,680,316 (GRCm39)	C739S	probably damaging	Het
Cep350	T	C	1: 155,737,977 (GRCm39)	E2622G	possibly damaging	Het
Chd5	C	T	4: 152,440,530 (GRCm39)		probably benign	Het
Chst11	T	A	10: 83,027,563 (GRCm39)	L330Q	probably damaging	Het
Clcnka	A	T	4: 141,120,094 (GRCm39)	V275E	probably damaging	Het
Clip4	G	A	17: 72,135,616 (GRCm39)	S456N	probably damaging	Het
Cmya5	A	T	13: 93,229,361 (GRCm39)	I1909N	probably damaging	Het
Cyp26b1	A	G	6: 84,553,626 (GRCm39)	I176T	probably damaging	Het
Dst	A	G	1: 34,346,668 (GRCm39)	R7717G	probably damaging	Het
Eml2	C	T	7: 18,918,846 (GRCm39)	R99*	probably null	Het
Fibin	T	C	2: 110,192,929 (GRCm39)	Q71R	probably benign	Het
Fsip2	T	G	2: 82,812,501 (GRCm39)	I2940S	possibly damaging	Het
Gabrb3	G	T	7: 57,241,112 (GRCm39)		probably benign	Het
Gfra1	G	A	19: 58,441,787 (GRCm39)	T48I	probably damaging	Het
Gm6483	C	T	8: 19,743,675 (GRCm39)		noncoding transcript	Het
Hdgfl1	G	A	13: 26,953,348 (GRCm39)	R242C	possibly damaging	Het
Hmcn1	T	C	1: 150,494,760 (GRCm39)	T4110A	probably benign	Het
Lama2	T	G	10: 26,994,489 (GRCm39)	M1807L	probably benign	Het
Larp4	T	C	15: 99,888,302 (GRCm39)	V113A	possibly damaging	Het
Mkx	T	C	18: 7,000,640 (GRCm39)	T101A	probably benign	Het
Nfe2l1	A	G	11: 96,718,491 (GRCm39)	F15L	probably damaging	Het
Nherf2	A	T	17: 24,860,930 (GRCm39)	V204E	probably damaging	Het
Nop14	A	G	5: 34,796,565 (GRCm39)	V764A	probably damaging	Het
Nosip	C	A	7: 44,726,752 (GRCm39)	A259E	probably damaging	Het
Ntn5	T	C	7: 45,341,300 (GRCm39)		probably benign	Het
Or9g20	T	C	2: 85,629,934 (GRCm39)	I227V	possibly damaging	Het
Phospho1	G	A	11: 95,721,714 (GRCm39)	G128D	probably damaging	Het
Ppp4r3a	G	A	12: 101,008,770 (GRCm39)	T703M	probably benign	Het
Pramel21	T	C	4: 143,342,667 (GRCm39)	F258S	possibly damaging	Het
Pramel58	A	G	5: 94,831,730 (GRCm39)	T246A	possibly damaging	Het
Prdm8	G	A	5: 98,334,418 (GRCm39)	E662K	probably damaging	Het
Ralgapa1	A	G	12: 55,723,202 (GRCm39)	S1775P	probably damaging	Het
Rapgef6	T	C	11: 54,540,172 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,677,966 (GRCm39)	T87A	possibly damaging	Het
Scrn3	A	G	2: 73,160,215 (GRCm39)	Q286R	probably benign	Het
Sema3d	A	T	5: 12,620,945 (GRCm39)	Q517L	probably benign	Het
Taf6l	T	C	19: 8,752,413 (GRCm39)	Y425C	probably damaging	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tcf3	C	T	10: 80,256,925 (GRCm39)	G64R	probably damaging	Het
Tmco4	T	C	4: 138,750,380 (GRCm39)		probably null	Het
Trappc11	A	G	8: 47,946,448 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,025 (GRCm39)	I193F	possibly damaging	Het
Vmn2r14	G	A	5: 109,367,882 (GRCm39)	T370I	probably benign	Het
Vmn2r65	T	A	7: 84,589,381 (GRCm39)	H845L	possibly damaging	Het
Vmn2r98	A	T	17: 19,285,521 (GRCm39)	T114S	probably benign	Het
Zfp280d	A	T	9: 72,242,356 (GRCm39)	R661S	probably damaging	Het
Zranb1	T	C	7: 132,568,410 (GRCm39)	I356T	probably benign	Het

Other mutations in Nif3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Nif3l1	APN	1	58,494,845 (GRCm39)	missense	possibly damaging	0.56
IGL01657:Nif3l1	APN	1	58,494,771 (GRCm39)	missense	probably damaging	0.98
IGL02159:Nif3l1	APN	1	58,487,105 (GRCm39)	splice site	probably null
IGL02223:Nif3l1	APN	1	58,487,202 (GRCm39)	nonsense	probably null
IGL02407:Nif3l1	APN	1	58,496,956 (GRCm39)	missense	possibly damaging	0.87
IGL02435:Nif3l1	APN	1	58,487,020 (GRCm39)	missense	possibly damaging	0.91
IGL02721:Nif3l1	APN	1	58,497,008 (GRCm39)	missense	probably damaging	1.00
R0472:Nif3l1	UTSW	1	58,486,987 (GRCm39)	missense	probably damaging	1.00
R1036:Nif3l1	UTSW	1	58,487,032 (GRCm39)	missense	probably damaging	1.00
R1256:Nif3l1	UTSW	1	58,494,808 (GRCm39)	missense	probably damaging	0.99
R1439:Nif3l1	UTSW	1	58,487,102 (GRCm39)	missense	probably damaging	1.00
R1483:Nif3l1	UTSW	1	58,486,885 (GRCm39)	missense	probably benign	0.01
R2240:Nif3l1	UTSW	1	58,491,288 (GRCm39)	missense	probably benign	0.35
R4379:Nif3l1	UTSW	1	58,494,738 (GRCm39)	intron	probably benign
R4381:Nif3l1	UTSW	1	58,494,738 (GRCm39)	intron	probably benign
R4552:Nif3l1	UTSW	1	58,488,483 (GRCm39)	unclassified	probably benign
R6524:Nif3l1	UTSW	1	58,496,999 (GRCm39)	missense	probably benign	0.01
R6567:Nif3l1	UTSW	1	58,494,789 (GRCm39)	missense	probably benign	0.13
R6698:Nif3l1	UTSW	1	58,489,648 (GRCm39)	missense	probably benign	0.01
R7254:Nif3l1	UTSW	1	58,489,625 (GRCm39)	missense	probably benign	0.01
R7841:Nif3l1	UTSW	1	58,487,042 (GRCm39)	missense	probably damaging	1.00
R8358:Nif3l1	UTSW	1	58,491,288 (GRCm39)	missense	probably benign	0.01
R8903:Nif3l1	UTSW	1	58,486,653 (GRCm39)	unclassified	probably benign
R9057:Nif3l1	UTSW	1	58,489,648 (GRCm39)	missense	probably benign	0.01
R9645:Nif3l1	UTSW	1	58,487,074 (GRCm39)	missense	probably benign

Posted On

2015-04-16