Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Nfic'

480897

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R5992 (G1)

Quality Score

140.008

Status

Not validated

Chromosome

Chromosomal Location

81232025-81267753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81256581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 19 (A19T)

Ref Sequence

ENSEMBL: ENSMUSP00000113046 (fasta)

Gene Model

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

AlphaFold

P70255

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020461
AA Change: A28T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: A28T

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: A28T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: A28T

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: A28T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: A28T

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: A19T

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

SMART Domains

Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: A19T

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: A50T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,819,549 (GRCm39)	L188*	probably null	Het
Acod1	C	T	14: 103,292,471 (GRCm39)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,839,194 (GRCm39)	K852M	probably damaging	Het
Adm	A	T	7: 110,226,903 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,263,837 (GRCm39)	S286G	probably damaging	Het
Ank2	A	G	3: 126,753,300 (GRCm39)		probably null	Het
Aqr	A	T	2: 113,973,530 (GRCm39)	Y427*	probably null	Het
Arid1b	C	A	17: 5,045,231 (GRCm39)		probably benign	Het
Arpp21	T	A	9: 111,972,553 (GRCm39)	R259*	probably null	Het
Cep290	C	T	10: 100,379,183 (GRCm39)	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Clcn2	T	C	16: 20,532,404 (GRCm39)	E68G	possibly damaging	Het
Corin	T	A	5: 72,473,732 (GRCm39)	H699L	probably benign	Het
Cyld	T	C	8: 89,459,681 (GRCm39)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,259,883 (GRCm39)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,421,507 (GRCm39)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,418,496 (GRCm39)	K128T	probably benign	Het
Dspp	T	A	5: 104,326,317 (GRCm39)	S893R	unknown	Het
Dtl	A	T	1: 191,300,684 (GRCm39)		probably null	Het
F2rl1	T	A	13: 95,650,778 (GRCm39)	S35C	probably benign	Het
Fcgbp	A	T	7: 27,819,959 (GRCm39)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,852,044 (GRCm39)	D42V	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,729,849 (GRCm39)	E256D	probably damaging	Het
Gm5157	A	G	7: 20,919,346 (GRCm39)	S66P	probably damaging	Het
Hal	T	G	10: 93,326,778 (GRCm39)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,207,284 (GRCm39)		probably null	Het
Lrrc37	A	T	11: 103,504,618 (GRCm39)	M2450K	possibly damaging	Het
Lrsam1	T	C	2: 32,845,234 (GRCm39)	T94A	probably benign	Het
Macc1	T	C	12: 119,411,320 (GRCm39)	V696A	probably damaging	Het
Magi2	G	A	5: 19,432,289 (GRCm39)	M1I	probably null	Het
Marchf7	C	A	2: 60,075,564 (GRCm39)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,300,776 (GRCm39)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm39)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,063,987 (GRCm39)	V386E	probably damaging	Het
Nfs1	G	A	2: 155,976,373 (GRCm39)	R174W	probably damaging	Het
Nin	G	T	12: 70,092,298 (GRCm39)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,930,935 (GRCm39)	I754V	probably benign	Het
Nwd1	T	C	8: 73,380,201 (GRCm39)		probably null	Het
Or4a39	T	A	2: 89,237,223 (GRCm39)	M67L	probably benign	Het
Or4c1	T	A	2: 89,133,703 (GRCm39)	T78S	possibly damaging	Het
Or51a6	G	T	7: 102,604,216 (GRCm39)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,896,502 (GRCm39)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,246,723 (GRCm39)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,954,300 (GRCm39)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,944,748 (GRCm39)		probably null	Het
Poldip3	A	T	15: 83,013,430 (GRCm39)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,478,695 (GRCm39)	I419L	probably benign	Het
Prss36	A	T	7: 127,544,002 (GRCm39)	V123E	probably damaging	Het
Prss58	A	G	6: 40,874,703 (GRCm39)	I46T	probably damaging	Het
Rac1	T	C	5: 143,492,753 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,220 (GRCm39)	Y36C	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	T	1: 4,218,926 (GRCm39)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,541,509 (GRCm39)	P417T	possibly damaging	Het
Ryr1	A	G	7: 28,767,062 (GRCm39)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,442,992 (GRCm39)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,165,800 (GRCm39)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,373,726 (GRCm39)	Y114C	probably damaging	Het
Son	T	C	16: 91,455,792 (GRCm39)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm39)	V447M	probably benign	Het
St3gal2	T	A	8: 111,696,185 (GRCm39)	Y257N	probably damaging	Het
Tars1	A	T	15: 11,397,282 (GRCm39)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,850,851 (GRCm39)	H158R	probably benign	Het
Tppp2	G	T	14: 52,156,392 (GRCm39)	V50L	probably benign	Het
Trrap	T	C	5: 144,746,994 (GRCm39)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,724,550 (GRCm39)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,249,747 (GRCm39)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,167,068 (GRCm39)	C688S	probably damaging	Het
Vps16	T	C	2: 130,266,369 (GRCm39)		probably null	Het
Zfp608	G	A	18: 55,032,320 (GRCm39)	T540I	probably benign	Het
Zfp775	G	A	6: 48,596,750 (GRCm39)	R208Q	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
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'- AGTACGAAGTCTTCACGGCAC -3'
(R):5'- CAGTTTCCTTATGTGGGCAACAG -3'

Sequencing Primer
(F):5'- AAGTCTTCACGGCACTCGGG -3'
(R):5'- GCAACAGGCCTGAGTTTACAG -3'

Posted On

2017-06-26