Mutagenetix > Incidental Mutation

Incidental Mutation 'R1483:Nif3l1'

165669

Institutional Source

Beutler Lab

Gene Symbol

Nif3l1

Ensembl Gene

ENSMUSG00000026036

Gene Name

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

Synonyms

1110030G24Rik

MMRRC Submission

039536-MU

Accession Numbers

Essential gene?

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

Stock #

R1483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58484310-58501435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58486885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 24 (R24S)

Ref Sequence

ENSEMBL: ENSMUSP00000124713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081677] [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000114345] [ENSMUST00000114348] [ENSMUST00000117069] [ENSMUST00000171597] [ENSMUST00000129759] [ENSMUST00000151272] [ENSMUST00000190048] [ENSMUST00000185990]

AlphaFold

Q9EQ80

Predicted Effect

probably benign
Transcript: ENSMUST00000081677

SMART Domains

Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	154	3.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087521
AA Change: R24S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: R24S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114337
AA Change: R24S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: R24S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114345

SMART Domains

Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	120	8.5e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114348

SMART Domains

Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	154	3.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117069

SMART Domains

Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	154	5.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124550

Predicted Effect

probably benign
Transcript: ENSMUST00000171597
AA Change: R24S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: R24S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129759
AA Change: R24S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036
AA Change: R24S

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	154	2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151272
AA Change: R24S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036
AA Change: R24S

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	131	3.1e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140723

Predicted Effect

probably benign
Transcript: ENSMUST00000190048

SMART Domains

Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	91	3.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185990

SMART Domains

Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	2	90	1.1e-26	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,531,754 (GRCm39)	T494S	probably benign	Het
Akap6	C	T	12: 52,842,870 (GRCm39)	P73S	probably damaging	Het
Amotl2	A	T	9: 102,608,096 (GRCm39)	T763S	probably benign	Het
Brd10	G	A	19: 29,696,745 (GRCm39)	P916L	possibly damaging	Het
Cdc5l	A	T	17: 45,719,290 (GRCm39)	V541D	possibly damaging	Het
Chl1	A	G	6: 103,624,248 (GRCm39)	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,931,733 (GRCm39)	E255G	probably benign	Het
Ddhd2	A	G	8: 26,243,155 (GRCm39)	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Drc3	A	G	11: 60,279,715 (GRCm39)	I427V	probably benign	Het
Drg2	T	C	11: 60,350,353 (GRCm39)	I104T	probably damaging	Het
Dst	C	T	1: 34,292,079 (GRCm39)	A932V	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Eif3a	A	T	19: 60,757,164 (GRCm39)	D880E	unknown	Het
Elf1	T	A	14: 79,818,078 (GRCm39)	D569E	probably benign	Het
Esp6	T	A	17: 40,873,816 (GRCm39)	M1K	probably null	Het
Fer1l6	T	C	15: 58,509,819 (GRCm39)	V1427A	possibly damaging	Het
Gsta1	A	T	9: 78,149,775 (GRCm39)	K196M	probably damaging	Het
Gzme	T	A	14: 56,356,169 (GRCm39)	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,354,724 (GRCm39)	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,432,038 (GRCm39)	S2T	probably benign	Het
Hadhb	A	G	5: 30,374,492 (GRCm39)		probably null	Het
Hoxa11	G	T	6: 52,220,436 (GRCm39)	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,572,041 (GRCm39)	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,049,436 (GRCm39)	V88A	possibly damaging	Het
Knop1	C	T	7: 118,452,273 (GRCm39)	A149T	probably damaging	Het
Macf1	T	A	4: 123,404,770 (GRCm39)	K597I	probably damaging	Het
Med16	A	T	10: 79,738,934 (GRCm39)	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937 (GRCm39)	I98K	probably damaging	Het
Mst1	G	T	9: 107,958,849 (GRCm39)	G127V	probably benign	Het
Nacad	A	G	11: 6,552,217 (GRCm39)	S325P	probably damaging	Het
Nbea	G	A	3: 55,910,211 (GRCm39)	P1328L	probably benign	Het
Nek5	C	T	8: 22,586,806 (GRCm39)	S335N	probably benign	Het
Nlrp14	T	G	7: 106,789,329 (GRCm39)	N39K	possibly damaging	Het
Nup50	T	A	15: 84,823,928 (GRCm39)	V427D	probably damaging	Het
Nwd1	C	T	8: 73,383,714 (GRCm39)	P78L	probably damaging	Het
Or5an9	T	A	19: 12,187,114 (GRCm39)	Y61*	probably null	Het
Pate8	G	A	9: 36,492,620 (GRCm39)	S95L	probably benign	Het
Pnkd	A	G	1: 74,388,550 (GRCm39)	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,360,465 (GRCm39)	D423G	probably benign	Het
Pramel32	T	A	4: 88,547,071 (GRCm39)	Q116L	probably damaging	Het
Prkci	A	T	3: 31,097,941 (GRCm39)	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,093,161 (GRCm39)	V494M	possibly damaging	Het
Rapgef4	T	G	2: 71,885,370 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,160,099 (GRCm39)	E318G	probably damaging	Het
Rora	A	G	9: 69,271,667 (GRCm39)	D215G	probably benign	Het
Rp1l1	C	T	14: 64,266,496 (GRCm39)	T694I	possibly damaging	Het
Scrib	A	G	15: 75,929,771 (GRCm39)	L1032P	probably damaging	Het
Sectm1b	G	A	11: 120,946,652 (GRCm39)	T81M	probably benign	Het
Sgk3	T	C	1: 9,942,518 (GRCm39)	F97L	possibly damaging	Het
Socs3	A	T	11: 117,858,394 (GRCm39)	Y221*	probably null	Het
Spata31d1e	A	T	13: 59,890,717 (GRCm39)	S368T	probably damaging	Het
Tdrd6	T	A	17: 43,938,498 (GRCm39)	H850L	probably benign	Het
Tex44	G	T	1: 86,354,908 (GRCm39)	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 115,938,625 (GRCm39)	S426A	probably benign	Het
Tmem39b	T	C	4: 129,570,456 (GRCm39)	Y461C	probably damaging	Het
Ttn	T	A	2: 76,555,337 (GRCm39)	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,455 (GRCm39)		probably null	Het
Vmn2r70	T	C	7: 85,208,375 (GRCm39)	I701V	probably benign	Het
Vps39	A	T	2: 120,154,129 (GRCm39)	L622Q	probably damaging	Het
Wdfy4	T	A	14: 32,822,923 (GRCm39)	H1347L	probably benign	Het
Xpo1	A	G	11: 23,234,863 (GRCm39)	I540V	probably benign	Het
Xylt2	A	C	11: 94,560,393 (GRCm39)	M294R	probably benign	Het
Zfp788	T	G	7: 41,298,499 (GRCm39)	Y326*	probably null	Het
Zim1	A	G	7: 6,685,124 (GRCm39)	F109L	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
IGL02676:Nif3l1	APN	1	58,494,895 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CGTGCTTTATGCCTCACAGTGCAG -3'
(R):5'- CCAAGTTATGTGCTTCATGGGCCG -3'

Sequencing Primer
(F):5'- CTCACAGTGCAGAGGTGAAC -3'
(R):5'- AGAATGAAGTCTGCCTTCTTTTGC -3'

Posted On

2014-03-28