Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Nfic'

557453

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

045329-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81232025-81267753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81256439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 75 (R75Q)

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: R75Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: R75Q

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: R75Q

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

SMART Domains

Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: R75Q

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: R75Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: R75Q

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: R66Q

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

SMART Domains

Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: R66Q

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: R97Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

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
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Abca8b	T	A	11: 109,825,415 (GRCm39)	E1595V	probably damaging	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Ddx43	A	C	9: 78,319,501 (GRCm39)	Q276H	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,348,752 (GRCm39)	L22*	probably null	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rasa4	A	G	5: 136,130,875 (GRCm39)	E382G	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,449,737 (GRCm39)	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Smchd1	A	C	17: 71,707,145 (GRCm39)	I941R	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	probably benign	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
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'- TAAGCCTCAGTTTGCCTGC -3'

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

Posted On

2019-06-26