Mutagenetix > Incidental Mutation

Incidental Mutation 'R1036:Nif3l1'

93763

Institutional Source

Beutler Lab

Gene Symbol

Nif3l1

Ensembl Gene

ENSMUSG00000026036

Gene Name

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

Synonyms

1110030G24Rik

MMRRC Submission

039135-MU

Accession Numbers

Essential gene?

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

Stock #

R1036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58484310-58501435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58487032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 73 (T73A)

Ref Sequence

ENSEMBL: ENSMUSP00000127501 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000087521
AA Change: T73A

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

SMART Domains

Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: T73A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114337
AA Change: T73A

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

SMART Domains

Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: T73A

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 damaging
Transcript: ENSMUST00000171597
AA Change: T73A

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

SMART Domains

Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: T73A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129759
AA Change: T73A

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

SMART Domains

Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036
AA Change: T73A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151272
AA Change: T73A

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

SMART Domains

Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036
AA Change: T73A

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: ENSMUST00000185990

SMART Domains

Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035

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

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

Meta Mutation Damage Score

0.8520

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.2%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abca12	A	G	1: 71,302,569 (GRCm39)		probably null	Het
Abcg1	C	A	17: 31,330,243 (GRCm39)	Q515K	probably damaging	Het
Acaa1b	A	T	9: 118,979,884 (GRCm39)		probably benign	Het
Adamts3	T	C	5: 89,843,952 (GRCm39)		probably benign	Het
Aoah	A	C	13: 21,024,339 (GRCm39)		probably benign	Het
Arhgap10	G	A	8: 78,037,398 (GRCm39)	P610L	probably damaging	Het
Casq2	G	T	3: 102,049,531 (GRCm39)	A295S	probably damaging	Het
Col6a4	A	G	9: 105,945,397 (GRCm39)	Y906H	probably damaging	Het
Dcaf13	T	A	15: 39,007,113 (GRCm39)	I349N	probably damaging	Het
Ecd	A	G	14: 20,383,386 (GRCm39)		probably benign	Het
Enpep	C	A	3: 129,077,758 (GRCm39)	V620L	probably damaging	Het
Fbln7	A	G	2: 128,735,815 (GRCm39)	S268G	possibly damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gatd1	T	A	7: 140,989,045 (GRCm39)	T205S	probably damaging	Het
Gbe1	T	A	16: 70,325,775 (GRCm39)	V604E	probably damaging	Het
Ghsr	T	A	3: 27,428,869 (GRCm39)	I298N	probably damaging	Het
Glis1	T	C	4: 107,489,461 (GRCm39)	Y683H	probably benign	Het
Gpr162	T	A	6: 124,837,823 (GRCm39)	I276F	probably damaging	Het
Hps6	A	G	19: 45,992,680 (GRCm39)	T206A	probably benign	Het
Kcnk10	T	C	12: 98,462,445 (GRCm39)		probably benign	Het
Krt90	A	G	15: 101,471,151 (GRCm39)	V37A	probably benign	Het
Lmbr1	T	C	5: 29,463,745 (GRCm39)	K160E	probably damaging	Het
Nup107	A	T	10: 117,593,199 (GRCm39)	D826E	probably damaging	Het
Nup210l	C	T	3: 90,100,247 (GRCm39)		probably benign	Het
Omd	A	G	13: 49,743,447 (GRCm39)	R166G	probably damaging	Het
Plekha4	T	C	7: 45,199,400 (GRCm39)		probably benign	Het
Ptgdr	A	G	14: 45,096,572 (GRCm39)	S47P	probably damaging	Het
Sec24c	A	G	14: 20,742,965 (GRCm39)	I940V	probably benign	Het
Shkbp1	A	G	7: 27,044,721 (GRCm39)	S457P	possibly damaging	Het
Skint1	T	C	4: 111,876,493 (GRCm39)	V138A	possibly damaging	Het
Slc38a9	A	G	13: 112,838,193 (GRCm39)		probably benign	Het
Spata31e5	A	G	1: 28,816,883 (GRCm39)	L383P	probably benign	Het
Srsf7	A	T	17: 80,513,266 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,793,235 (GRCm39)	K300R	probably damaging	Het
Stox1	A	T	10: 62,503,674 (GRCm39)	I127K	probably damaging	Het
Sympk	G	A	7: 18,782,378 (GRCm39)	R832Q	probably damaging	Het
Usp3	A	G	9: 66,437,513 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TACAAGTGTGCAACGTGCCCAG -3'
(R):5'- GGACAAGAGTTTTCTCACCAAGCCC -3'

Sequencing Primer
(F):5'- CAACGTGCCCAGTCGTG -3'
(R):5'- TGGGGTGCCGCATCATAG -3'

Posted On

2014-01-05