Mutagenetix > Incidental Mutation

Incidental Mutation 'R1872:Nfic'

210866

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

039894-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R1872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81232025-81267753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81256518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 71 (M71L)

Ref Sequence

ENSEMBL: ENSMUSP00000152790 (fasta)

Gene Model

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

AlphaFold

P70255

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020461
AA Change: M49L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: M49L

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

possibly damaging
Transcript: ENSMUST00000078185
AA Change: M49L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: M49L

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

possibly damaging
Transcript: ENSMUST00000105321
AA Change: M49L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: M49L

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

possibly damaging
Transcript: ENSMUST00000117966
AA Change: M40L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: M40L

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

noncoding transcript
Transcript: ENSMUST00000199973

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221817
AA Change: M71L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.2448

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (113/117)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,493 (GRCm39)	C133Y	unknown	Het
Abce1	A	G	8: 80,416,880 (GRCm39)	M377T	possibly damaging	Het
Adam25	A	T	8: 41,208,263 (GRCm39)	R510*	probably null	Het
Adamts12	G	T	15: 11,217,966 (GRCm39)	E308*	probably null	Het
Adgrg3	C	A	8: 95,760,070 (GRCm39)	N96K	possibly damaging	Het
Afdn	T	C	17: 14,101,578 (GRCm39)	V1022A	probably damaging	Het
Akap9	T	C	5: 4,051,406 (GRCm39)	V1391A	probably damaging	Het
Akip1	A	G	7: 109,310,982 (GRCm39)	Y174C	probably damaging	Het
Aoc1l1	A	G	6: 48,952,554 (GRCm39)	I160V	probably benign	Het
Ap3b2	T	C	7: 81,113,898 (GRCm39)	T830A	unknown	Het
Aph1a	A	G	3: 95,802,876 (GRCm39)	T159A	probably damaging	Het
Ccdc146	T	C	5: 21,506,288 (GRCm39)	T718A	probably benign	Het
Cdk5r2	T	C	1: 74,894,981 (GRCm39)	L242P	probably damaging	Het
Cep97	T	A	16: 55,748,229 (GRCm39)	N67I	probably damaging	Het
Cgas	T	C	9: 78,340,484 (GRCm39)	D416G	probably benign	Het
Chic2	A	T	5: 75,172,140 (GRCm39)	W121R	possibly damaging	Het
Clock	A	G	5: 76,396,309 (GRCm39)	S147P	possibly damaging	Het
Cntnap5a	T	G	1: 116,016,940 (GRCm39)	S178A	probably benign	Het
Col11a2	C	A	17: 34,281,529 (GRCm39)		probably benign	Het
Col6a3	T	A	1: 90,757,936 (GRCm39)	H6L	probably damaging	Het
Cpne5	T	C	17: 29,423,667 (GRCm39)	N154D	probably benign	Het
Ctsz	T	G	2: 174,269,769 (GRCm39)	K273Q	probably benign	Het
Cybrd1	G	A	2: 70,960,104 (GRCm39)	V101M	probably benign	Het
Cyp2c23	T	A	19: 43,993,990 (GRCm39)	K459*	probably null	Het
Cyp4a31	A	T	4: 115,431,933 (GRCm39)	H419L	probably damaging	Het
D930020B18Rik	G	A	10: 121,477,879 (GRCm39)	V35M	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dnah9	C	T	11: 65,928,316 (GRCm39)	V2118M	probably benign	Het
Dtna	T	C	18: 23,730,617 (GRCm39)		probably null	Het
Ednra	C	T	8: 78,447,025 (GRCm39)	V18I	possibly damaging	Het
Elac1	T	C	18: 73,875,717 (GRCm39)	R105G	probably benign	Het
Exoc2	A	G	13: 31,006,644 (GRCm39)	S844P	probably benign	Het
Fam185a	A	T	5: 21,685,328 (GRCm39)		probably null	Het
Fam204a	A	G	19: 60,187,881 (GRCm39)	M233T	possibly damaging	Het
Fat1	C	A	8: 45,406,341 (GRCm39)	H1031N	probably benign	Het
Fat1	T	A	8: 45,491,386 (GRCm39)	Y3816N	probably damaging	Het
Fbxo38	C	T	18: 62,650,094 (GRCm39)	R621Q	probably benign	Het
Fhod3	C	A	18: 25,263,667 (GRCm39)	R1524S	probably damaging	Het
Fnip1	A	T	11: 54,378,561 (GRCm39)	R192W	probably damaging	Het
Frem3	T	A	8: 81,339,205 (GRCm39)	H499Q	probably damaging	Het
Gab2	C	T	7: 96,948,250 (GRCm39)	T280I	probably damaging	Het
Gdpgp1	A	G	7: 79,888,172 (GRCm39)	R68G	probably benign	Het
Gm10382	C	T	5: 125,466,624 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,908,938 (GRCm39)	H480R	probably benign	Het
Hecw1	G	A	13: 14,455,034 (GRCm39)	R674*	probably null	Het
Herc2	T	A	7: 55,807,257 (GRCm39)	F2478L	probably benign	Het
Homer2	C	T	7: 81,286,150 (GRCm39)	V21M	probably damaging	Het
Ifna9	A	G	4: 88,510,492 (GRCm39)	M44T	probably damaging	Het
Igfl3	A	G	7: 17,913,821 (GRCm39)	D57G	possibly damaging	Het
Jcad	T	C	18: 4,673,048 (GRCm39)	M270T	probably benign	Het
Kdm5b	T	C	1: 134,552,732 (GRCm39)	L1236P	probably damaging	Het
Kif14	T	A	1: 136,414,096 (GRCm39)	L724Q	probably damaging	Het
Lhb	T	C	7: 45,070,757 (GRCm39)	V45A	probably damaging	Het
Lhpp	A	G	7: 132,235,816 (GRCm39)	N134D	probably benign	Het
Mas1	T	C	17: 13,061,078 (GRCm39)	Y115C	probably damaging	Het
Mgam	A	T	6: 40,638,234 (GRCm39)	K395*	probably null	Het
Mms22l	A	G	4: 24,598,807 (GRCm39)	N1134S	probably damaging	Het
Mrc1	A	G	2: 14,330,192 (GRCm39)		probably null	Het
Mrgprg	G	A	7: 143,318,281 (GRCm39)	S277L	probably damaging	Het
Mrpl49	G	T	19: 6,107,010 (GRCm39)	P60T	possibly damaging	Het
Mrps10	G	A	17: 47,683,377 (GRCm39)	G104D	possibly damaging	Het
Msantd3	A	G	4: 48,552,771 (GRCm39)	Y120C	probably damaging	Het
Mtcl2	A	G	2: 156,882,181 (GRCm39)	C624R	possibly damaging	Het
N4bp2	C	T	5: 65,951,861 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,550,310 (GRCm39)	V2706A	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or12e1	A	G	2: 87,022,222 (GRCm39)	T64A	possibly damaging	Het
Or14j4	G	T	17: 37,920,803 (GRCm39)	P280T	probably damaging	Het
Or4a15	A	G	2: 89,192,933 (GRCm39)	L280P	probably damaging	Het
Or4c105	T	A	2: 88,648,280 (GRCm39)	V255E	probably benign	Het
Pak5	T	C	2: 135,927,508 (GRCm39)	I655V	possibly damaging	Het
Pip5k1c	A	G	10: 81,142,153 (GRCm39)	N121S	probably damaging	Het
Plce1	A	T	19: 38,748,521 (GRCm39)	I1737F	probably damaging	Het
Prrt1	T	C	17: 34,849,925 (GRCm39)	L113P	probably damaging	Het
Ptprq	T	A	10: 107,479,860 (GRCm39)	T1137S	probably benign	Het
Recql5	T	C	11: 115,814,135 (GRCm39)	I223V	probably benign	Het
Reg3g	A	T	6: 78,444,836 (GRCm39)	Y47*	probably null	Het
Rgs12	T	G	5: 35,123,165 (GRCm39)	M316R	probably damaging	Het
Ric1	T	C	19: 29,580,068 (GRCm39)	S1290P	probably benign	Het
Rpl36al	A	G	12: 69,229,697 (GRCm39)	C72R	probably damaging	Het
Rplp0	T	A	5: 115,701,374 (GRCm39)	F275L	possibly damaging	Het
Rpp30	G	A	19: 36,064,793 (GRCm39)	V89I	probably benign	Het
Ryr3	A	G	2: 112,539,482 (GRCm39)	F3253L	possibly damaging	Het
Serpina3n	A	T	12: 104,375,203 (GRCm39)	N92Y	probably benign	Het
Setd7	G	T	3: 51,450,252 (GRCm39)	T58N	probably benign	Het
Sh3tc2	T	A	18: 62,144,954 (GRCm39)	L1136Q	probably damaging	Het
Slc35b4	G	A	6: 34,135,440 (GRCm39)	Q291*	probably null	Het
Sort1	A	G	3: 108,248,011 (GRCm39)	N452S	probably benign	Het
Sympk	A	G	7: 18,763,070 (GRCm39)	I46V	probably benign	Het
Syngr2	T	C	11: 117,703,364 (GRCm39)	V60A	probably damaging	Het
Syt17	A	T	7: 118,007,341 (GRCm39)	F318I	probably benign	Het
Tdpoz8	T	A	3: 92,981,729 (GRCm39)	L249H	probably damaging	Het
Tgfb1	T	A	7: 25,391,891 (GRCm39)	L149M	probably damaging	Het
Ticam1	A	T	17: 56,578,897 (GRCm39)	M66K	probably benign	Het
Tmem131	G	T	1: 36,847,008 (GRCm39)	D1363E	probably benign	Het
Tns4	A	C	11: 98,970,926 (GRCm39)	D261E	probably damaging	Het
Trim30a	T	C	7: 104,078,417 (GRCm39)	N220D	probably benign	Het
Trmt10a	T	C	3: 137,862,481 (GRCm39)	L257P	probably damaging	Het
Troap	G	T	15: 98,973,233 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,751,338 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vav1	A	C	17: 57,631,750 (GRCm39)	K775T	probably damaging	Het
Vmn1r236	A	G	17: 21,507,673 (GRCm39)	K264E	possibly damaging	Het
Vmn1r84	A	G	7: 12,096,555 (GRCm39)	V46A	probably benign	Het
Wdr59	A	T	8: 112,185,649 (GRCm39)	W835R	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp7	T	G	15: 76,775,977 (GRCm39)	I673S	probably benign	Het
Zmynd11	A	G	13: 9,748,737 (GRCm39)	I108T	possibly 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
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
R7682:Nfic	UTSW	10	81,256,334 (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'- ATGACCATGACCAGGTCCAGAC -3'
(R):5'- CTGAGCAGTAGGTCTTGCTG -3'

Sequencing Primer
(F):5'- AGACGCCACACTTTGTCG -3'
(R):5'- GGTCTTGCTGGCCTAAGC -3'

Posted On

2014-06-30