Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Nfic'

717377

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81232025-81267753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81256502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 54 (E54G)

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: E54G

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

SMART Domains

Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: E54G

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: E54G

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

SMART Domains

Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: E54G

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: E54G

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

SMART Domains

Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: E54G

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: E45G

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

SMART Domains

Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: E45G

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: E76G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	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
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
R7682:Nfic	UTSW	10	81,256,334 (GRCm39)	missense	probably damaging	1.00
R8858:Nfic	UTSW	10	81,262,965 (GRCm39)	intron	probably benign
X0065:Nfic	UTSW	10	81,262,932 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGGATGACCATGACCAGGTC -3'
(R):5'- TGCCTGAGCAGTAGGTCTTG -3'

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

Posted On

2022-07-18