Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:Nif3l1'

325222

Institutional Source

Beutler Lab

Gene Symbol

Nif3l1

Ensembl Gene

ENSMUSG00000026036

Gene Name

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

Synonyms

1110030G24Rik

MMRRC Submission

041677-MU

Accession Numbers

Essential gene?

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

Stock #

R4379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58484310-58501435 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 58494738 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 benign
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 benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
En1	A	G	1: 120,531,084 (GRCm39)	N108S	possibly damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Glt1d1	T	C	5: 127,771,346 (GRCm39)	V279A	possibly damaging	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrc34	A	G	3: 30,685,524 (GRCm39)	L275P	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,424 (GRCm39)	Y103C	probably damaging	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	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
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
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'- CCCTAATGTAGTGCCTACCTTG -3'
(R):5'- TGTCCAAAGTCACAGTATATCTACC -3'

Sequencing Primer
(F):5'- GTAGTGCCTACCTTGATTTAAGAAAC -3'
(R):5'- AGTCACAGTATATCTACCAGATGATG -3'

Posted On

2015-07-06