Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Nif3l1'

240283

Institutional Source

Beutler Lab

Gene Symbol

Nif3l1

Ensembl Gene

ENSMUSG00000026036

Gene Name

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

Synonyms

1110030G24Rik

MMRRC Submission

040240-MU

Accession Numbers

Essential gene?

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

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58484310-58501435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58491288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 213 (T213A)

Ref Sequence

ENSEMBL: ENSMUSP00000127501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087521] [ENSMUST00000114337] [ENSMUST00000129759] [ENSMUST00000151272] [ENSMUST00000171597]

AlphaFold

Q9EQ80

Predicted Effect

probably benign
Transcript: ENSMUST00000087521
AA Change: T213A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: T213A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114337
AA Change: T213A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: T213A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129759

SMART Domains

Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140723

Predicted Effect

probably benign
Transcript: ENSMUST00000151272

SMART Domains

Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171597
AA Change: T213A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: T213A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185578

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,417 (GRCm39)	I318N	probably damaging	Het
Abl1	A	G	2: 31,690,517 (GRCm39)	K679E	probably benign	Het
Actr8	A	G	14: 29,711,714 (GRCm39)	H420R	possibly damaging	Het
Arhgap29	T	A	3: 121,805,102 (GRCm39)	V897D	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bicc1	A	G	10: 70,782,633 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,432,613 (GRCm39)		probably benign	Het
Camk2g	T	C	14: 20,815,514 (GRCm39)	E184G	probably damaging	Het
Camta1	T	C	4: 151,169,032 (GRCm39)	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,802,558 (GRCm39)	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,107,596 (GRCm39)	D93V	probably damaging	Het
Ces2g	A	C	8: 105,689,134 (GRCm39)	S37R	probably benign	Het
Clca3a1	T	A	3: 144,714,746 (GRCm39)	R624W	probably damaging	Het
Clca3b	T	C	3: 144,531,696 (GRCm39)	K703E	probably benign	Het
Clec2h	T	C	6: 128,652,845 (GRCm39)	V204A	probably benign	Het
Cltb	T	C	13: 54,746,967 (GRCm39)	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,218,582 (GRCm39)	I65V	unknown	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,021,931 (GRCm39)	S1191G	probably benign	Het
Ehf	G	A	2: 103,104,420 (GRCm39)	P163S	probably benign	Het
Fam170b	A	C	14: 32,557,825 (GRCm39)	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,527,297 (GRCm39)	T598I	probably benign	Het
Fignl2	C	T	15: 100,951,916 (GRCm39)	G122D	probably damaging	Het
Foxp4	C	A	17: 48,182,201 (GRCm39)	V530L	unknown	Het
Gcnt1	G	T	19: 17,306,695 (GRCm39)	D343E	possibly damaging	Het
Gja8	T	G	3: 96,827,618 (GRCm39)	N15H	probably benign	Het
Gm128	T	C	3: 95,148,243 (GRCm39)	E17G	probably benign	Het
Gnl1	T	C	17: 36,293,571 (GRCm39)	V252A	probably benign	Het
Gpld1	G	A	13: 25,166,490 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,242,559 (GRCm39)	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,553,513 (GRCm39)	D31E	possibly damaging	Het
Il12a	T	A	3: 68,601,517 (GRCm39)	Y58*	probably null	Het
Il1r2	T	C	1: 40,144,630 (GRCm39)	W106R	probably damaging	Het
Kif26b	A	G	1: 178,543,488 (GRCm39)	S374G	probably benign	Het
Mafb	A	T	2: 160,207,947 (GRCm39)	V217E	probably damaging	Het
Mapk13	T	A	17: 28,997,085 (GRCm39)	D292E	probably damaging	Het
Matn2	A	G	15: 34,433,209 (GRCm39)	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701 (GRCm39)	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,699,978 (GRCm39)	I723M	probably damaging	Het
Mia2	G	A	12: 59,154,668 (GRCm39)	S127N	probably benign	Het
Mpeg1	A	C	19: 12,440,402 (GRCm39)	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,293,389 (GRCm39)	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,699,696 (GRCm39)	I156V	probably benign	Het
Neurog1	T	C	13: 56,399,348 (GRCm39)	E133G	probably damaging	Het
Nid2	G	A	14: 19,855,982 (GRCm39)	D1236N	probably damaging	Het
Or7e173	A	G	9: 19,938,440 (GRCm39)	S265P	probably damaging	Het
Otog	A	G	7: 45,890,453 (GRCm39)	M1V	probably null	Het
Pde4dip	C	T	3: 97,631,480 (GRCm39)	R1143K	probably benign	Het
Pgam2	T	C	11: 5,753,265 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,090,250 (GRCm39)	D30G	probably damaging	Het
Pramel5	C	A	4: 143,999,506 (GRCm39)	E194*	probably null	Het
Prss22	T	A	17: 24,215,755 (GRCm39)	S56C	probably damaging	Het
Rab23	A	G	1: 33,778,406 (GRCm39)	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,858,815 (GRCm39)	E491V	probably damaging	Het
Rbbp8	C	T	18: 11,810,726 (GRCm39)	T76I	probably damaging	Het
Rtn2	G	A	7: 19,020,754 (GRCm39)		probably null	Het
Sdr39u1	A	T	14: 56,137,124 (GRCm39)	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,507,071 (GRCm39)	V342A	probably damaging	Het
Slc49a3	A	G	5: 108,592,573 (GRCm39)	S234P	probably benign	Het
Snx30	G	T	4: 59,886,515 (GRCm39)	C308F	probably damaging	Het
Timd2	A	T	11: 46,569,043 (GRCm39)	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfaip6	G	A	2: 51,940,926 (GRCm39)	D156N	probably benign	Het
Uggt2	T	A	14: 119,232,461 (GRCm39)	E1463D	probably damaging	Het
Urb2	C	A	8: 124,756,878 (GRCm39)	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,887,369 (GRCm39)	L58*	probably null	Het
Vmn2r3	C	A	3: 64,166,483 (GRCm39)	G883C	probably benign	Het
Vps13d	A	T	4: 144,837,465 (GRCm39)	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,207,418 (GRCm39)		probably null	Het
Wdr37	T	A	13: 8,911,268 (GRCm39)		probably benign	Het
Wtap	G	A	17: 13,194,352 (GRCm39)	Q95*	probably null	Het
Zfp26	A	T	9: 20,348,563 (GRCm39)	L667H	probably damaging	Het
Zfp268	C	T	4: 145,311,891 (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
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
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'- GAGAAGTAGGTATCCATACAGACTTAC -3'
(R):5'- ATTGCAGCACAACACAACTGTAATG -3'

Sequencing Primer
(F):5'- ACTCACTATGTAGACCAGGTTGGC -3'
(R):5'- TGTAATGCAGTCCACAAACATTC -3'

Posted On

2014-10-15