Mutagenetix > Incidental Mutation

Incidental Mutation 'R7682:Nfic'

592832

Institutional Source

Beutler Lab

Gene Symbol

Nfic

Ensembl Gene

ENSMUSG00000055053

Gene Name

nuclear factor I/C

Synonyms

1500041O16Rik, NF1-C, nuclear factor 1-C2, 1110019L22Rik

MMRRC Submission

045748-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R7682 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81232025-81267753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81256334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 110 (D110G)

Ref Sequence

ENSEMBL: ENSMUSP00000100958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020461] [ENSMUST00000078185] [ENSMUST00000105321] [ENSMUST00000117966] [ENSMUST00000221817]

AlphaFold

P70255

Predicted Effect

probably damaging
Transcript: ENSMUST00000020461
AA Change: D110G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: D110G

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	7	47	4.6e-30	PFAM
DWA	68	176	5.77e-24	SMART
Pfam:CTF_NFI	217	428	2e-107	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000078185
AA Change: D110G

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

SMART Domains

Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: D110G

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	4	47	9.5e-31	PFAM
DWA	68	176	5.77e-24	SMART
Pfam:CTF_NFI	217	323	1.4e-52	PFAM
Pfam:CTF_NFI	316	387	1.7e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105321
AA Change: D110G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: D110G

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	4	47	8e-31	PFAM
DWA	68	176	5.77e-24	SMART
Pfam:CTF_NFI	217	426	5.2e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117966
AA Change: D101G

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

SMART Domains

Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: D101G

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	1	38	1.3e-27	PFAM
DWA	59	167	5.77e-24	SMART
Pfam:CTF_NFI	208	421	1.9e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221817
AA Change: D132G

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

Meta Mutation Damage Score

0.9644

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null allele have abnormal incisor and molar root development, show reduced alveolar bone formation, and exhibit impaired feeding leading to severe runting and premature death when reared on standard laboratory chow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	A	16: 88,556,373 (GRCm39)	S196T	probably benign	Het
Abcc5	T	C	16: 20,186,803 (GRCm39)	D977G	probably damaging	Het
Acot2	T	C	12: 84,034,698 (GRCm39)	V8A	probably benign	Het
Adamts9	T	A	6: 92,857,679 (GRCm39)	I870F	possibly damaging	Het
Adgrl3	G	A	5: 81,942,407 (GRCm39)	V1414I	probably damaging	Het
Aggf1	T	C	13: 95,504,934 (GRCm39)	K275R	probably benign	Het
Alpk1	T	C	3: 127,466,195 (GRCm39)	I1104V	possibly damaging	Het
Angptl7	A	T	4: 148,582,539 (GRCm39)	I119N	probably damaging	Het
Ank3	A	T	10: 69,824,065 (GRCm39)	E129D	possibly damaging	Het
Brca2	T	A	5: 150,466,618 (GRCm39)	H2127Q	probably benign	Het
Brd4	A	G	17: 32,420,134 (GRCm39)	F1008S	unknown	Het
Car2	T	C	3: 14,953,025 (GRCm39)	S56P	probably damaging	Het
Casp3	A	G	8: 47,085,420 (GRCm39)	Y41C	probably benign	Het
Ces4a	A	T	8: 105,873,297 (GRCm39)	T381S	probably benign	Het
Clstn1	A	G	4: 149,710,558 (GRCm39)	T77A	possibly damaging	Het
Cul7	G	T	17: 46,966,521 (GRCm39)	V615L	probably benign	Het
Dnpep	A	G	1: 75,293,384 (GRCm39)	F24L	probably damaging	Het
Efcab3	T	A	11: 104,855,174 (GRCm39)		probably null	Het
Emsy	G	A	7: 98,239,905 (GRCm39)	R1263W	probably damaging	Het
Fam124b	A	T	1: 80,191,282 (GRCm39)	C34S	possibly damaging	Het
Fan1	C	A	7: 64,022,512 (GRCm39)	G247V	probably benign	Het
Fbxl9	C	A	8: 106,041,916 (GRCm39)	R304L	possibly damaging	Het
Glipr1l3	T	G	10: 111,977,777 (GRCm39)	H218P	probably benign	Het
Gm14305	T	A	2: 176,412,703 (GRCm39)	S198R	probably benign	Het
Gm14326	T	C	2: 177,590,274 (GRCm39)	Y29C	probably damaging	Het
Gm45713	C	T	7: 44,783,426 (GRCm39)	V147I	probably benign	Het
Gpr149	C	T	3: 62,438,160 (GRCm39)	D666N	probably damaging	Het
Gpr183	A	G	14: 122,192,152 (GRCm39)	I123T	possibly damaging	Het
Il7r	A	T	15: 9,513,013 (GRCm39)	H165Q	probably damaging	Het
Krt73	A	G	15: 101,710,480 (GRCm39)	F85L	probably benign	Het
Lrrc8d	A	G	5: 105,960,657 (GRCm39)	T356A	probably damaging	Het
Marco	A	G	1: 120,421,771 (GRCm39)		probably null	Het
Mettl14	T	A	3: 123,177,253 (GRCm39)	E49D	possibly damaging	Het
Mrap	T	A	16: 90,546,110 (GRCm39)		probably null	Het
Mrps34	C	T	17: 25,114,852 (GRCm39)	A152V	probably benign	Het
Nfasc	T	A	1: 132,501,511 (GRCm39)	Y1163F	unknown	Het
Nip7	T	C	8: 107,783,751 (GRCm39)	V28A	possibly damaging	Het
Odam	T	C	5: 88,040,287 (GRCm39)	F251S	possibly damaging	Het
Olfm5	T	A	7: 103,810,979 (GRCm39)	Q53L	probably null	Het
P2ry13	T	G	3: 59,117,545 (GRCm39)	M78L	probably benign	Het
Pacs1	T	C	19: 5,202,727 (GRCm39)	E385G	probably damaging	Het
Pip5k1b	C	T	19: 24,337,343 (GRCm39)	G315D	probably damaging	Het
Pla2g4a	C	A	1: 149,762,022 (GRCm39)	R145L	probably damaging	Het
Pramel26	A	G	4: 143,537,290 (GRCm39)	L347S	probably benign	Het
Rars1	T	C	11: 35,719,579 (GRCm39)	Q81R	probably benign	Het
Rassf7	A	G	7: 140,797,847 (GRCm39)	N296D	probably damaging	Het
Rcsd1	C	T	1: 165,485,262 (GRCm39)	A94T	probably benign	Het
Rgs8	T	C	1: 153,566,668 (GRCm39)	F73S	probably damaging	Het
Rilpl2	A	C	5: 124,616,043 (GRCm39)	Y36D	probably damaging	Het
Rpl10l	A	G	12: 66,331,004 (GRCm39)	V43A	probably benign	Het
Sesn2	T	C	4: 132,224,200 (GRCm39)	I403V	probably damaging	Het
Slc10a4	C	T	5: 73,164,453 (GRCm39)	S15L	unknown	Het
Slc7a5	T	C	8: 122,633,879 (GRCm39)	Y156C	probably damaging	Het
Spata18	A	G	5: 73,826,008 (GRCm39)	H105R		Het
Specc1l	A	G	10: 75,081,636 (GRCm39)	D344G	probably damaging	Het
Syne1	A	G	10: 5,112,461 (GRCm39)	V415A	probably benign	Het
Thbs4	T	G	13: 92,912,070 (GRCm39)	D220A	probably benign	Het
Tmco5	T	C	2: 116,716,752 (GRCm39)	S152P	probably benign	Het
Tmem35b	A	T	4: 127,022,734 (GRCm39)	D125V	probably damaging	Het
Trim17	A	G	11: 58,857,634 (GRCm39)	E155G	possibly damaging	Het
Vmn2r11	A	C	5: 109,195,481 (GRCm39)	V615G	probably benign	Het
Vmn2r88	A	T	14: 51,655,906 (GRCm39)	Q705L		Het
Vmn2r93	A	G	17: 18,525,583 (GRCm39)	R414G	probably benign	Het
Xirp2	T	C	2: 67,339,193 (GRCm39)	L478P	probably damaging	Het

Other mutations in Nfic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Nfic	APN	10	81,244,054 (GRCm39)	missense	possibly damaging	0.94
IGL01486:Nfic	APN	10	81,243,478 (GRCm39)	splice site	probably null
IGL01784:Nfic	APN	10	81,241,982 (GRCm39)	missense	possibly damaging	0.70
IGL02053:Nfic	APN	10	81,256,385 (GRCm39)	missense	probably damaging	1.00
IGL03128:Nfic	APN	10	81,242,025 (GRCm39)	missense	probably benign	0.21
sterb	UTSW	10	81,256,634 (GRCm39)	critical splice acceptor site	probably null
Stronger	UTSW	10	81,256,334 (GRCm39)	missense	probably damaging	1.00
Taller	UTSW	10	81,241,921 (GRCm39)	critical splice donor site	probably null
R0113:Nfic	UTSW	10	81,256,419 (GRCm39)	missense	probably damaging	1.00
R1468:Nfic	UTSW	10	81,256,414 (GRCm39)	missense	probably damaging	1.00
R1468:Nfic	UTSW	10	81,256,414 (GRCm39)	missense	probably damaging	1.00
R1807:Nfic	UTSW	10	81,240,819 (GRCm39)	missense	probably benign	0.21
R1872:Nfic	UTSW	10	81,256,518 (GRCm39)	missense	possibly damaging	0.89
R2295:Nfic	UTSW	10	81,256,365 (GRCm39)	missense	probably damaging	1.00
R2324:Nfic	UTSW	10	81,241,921 (GRCm39)	critical splice donor site	probably null
R5992:Nfic	UTSW	10	81,256,581 (GRCm39)	missense	probably damaging	1.00
R6260:Nfic	UTSW	10	81,256,351 (GRCm39)	nonsense	probably null
R6972:Nfic	UTSW	10	81,256,191 (GRCm39)	missense	probably benign	0.00
R6973:Nfic	UTSW	10	81,256,191 (GRCm39)	missense	probably benign	0.00
R6982:Nfic	UTSW	10	81,256,634 (GRCm39)	critical splice acceptor site	probably null
R7158:Nfic	UTSW	10	81,256,439 (GRCm39)	missense	probably damaging	1.00
R8858:Nfic	UTSW	10	81,262,965 (GRCm39)	intron	probably benign
R9498:Nfic	UTSW	10	81,256,502 (GRCm39)	missense	probably damaging	1.00
X0065:Nfic	UTSW	10	81,262,932 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TACAGGTCCAGCTCCTTGAC -3'
(R):5'- CTTCAAGAAGCACGAGAAGC -3'

Sequencing Primer
(F):5'- GCCAATATGGTGCGGCTG -3'
(R):5'- ACGAGAAGCGCATGTCC -3'

Posted On

2019-11-12