Mutagenetix > Incidental Mutation

Incidental Mutation 'R1737:Nfib'

199765

Institutional Source

Beutler Lab

Gene Symbol

Nfib

Ensembl Gene

ENSMUSG00000008575

Gene Name

nuclear factor I/B

Synonyms

6720429L07Rik, E030026I10Rik

MMRRC Submission

039769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82208410-82424988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82416826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 70 (K70E)

Ref Sequence

ENSEMBL: ENSMUSP00000102866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050872] [ENSMUST00000064770] [ENSMUST00000107245] [ENSMUST00000107246] [ENSMUST00000107247] [ENSMUST00000107248] [ENSMUST00000155821]

AlphaFold

P97863

Predicted Effect

probably damaging
Transcript: ENSMUST00000050872
AA Change: K71E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: K71E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	7	47	4.2e-29	PFAM
DWA	68	176	1.65e-19	SMART
Pfam:CTF_NFI	209	506	5.7e-123	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064770
AA Change: K71E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575
AA Change: K71E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	4	47	3.7e-30	PFAM
DWA	68	176	1.65e-19	SMART
Pfam:CTF_NFI	209	419	2.4e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107245
AA Change: K70E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: K70E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	2.9e-30	PFAM
DWA	67	175	1.65e-19	SMART
Pfam:CTF_NFI	208	493	1.6e-123	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107246
AA Change: K70E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: K70E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	5.9e-30	PFAM
DWA	67	175	1.65e-19	SMART
Pfam:CTF_NFI	208	462	3.7e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107247
AA Change: K70E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: K70E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	7.5e-31	PFAM
DWA	67	175	1.65e-19	SMART
Pfam:CTF_NFI	208	492	2.5e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107248
AA Change: K70E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: K70E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	6.9e-30	PFAM
DWA	67	175	1.65e-19	SMART
Pfam:CTF_NFI	208	501	1.5e-125	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122918

Predicted Effect

probably damaging
Transcript: ENSMUST00000155821
AA Change: K86E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123169
Gene: ENSMUSG00000008575
AA Change: K86E

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	20	62	2.8e-28	PFAM
DWA	83	175	1.06e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152588

Meta Mutation Damage Score

0.3531

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.1%
20x: 91.4%

Validation Efficiency

100% (75/75)

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene causes severe lung defects and neonatal death from respiratory failure. Homozygotes for a null allele show callosal agenesis and abnormalities in forebrain, basilar pons, hippocampus, and submandibular gland development, as well as lung maturation defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Ak7	G	A	12: 105,708,591 (GRCm39)	V349M	probably damaging	Het
Aldh1a2	A	T	9: 71,192,453 (GRCm39)	E436V	possibly damaging	Het
Apc	C	A	18: 34,450,075 (GRCm39)	P2290T	probably damaging	Het
Atp10a	T	C	7: 58,476,986 (GRCm39)		probably benign	Het
Bahd1	T	C	2: 118,746,404 (GRCm39)	S8P	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Capn10	T	C	1: 92,862,677 (GRCm39)	Y28H	probably benign	Het
Cdh10	A	T	15: 18,964,149 (GRCm39)	I104F	probably damaging	Het
Cep170b	A	G	12: 112,703,061 (GRCm39)	D508G	possibly damaging	Het
Ces2a	G	T	8: 105,467,456 (GRCm39)	A494S	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cltc	G	A	11: 86,624,553 (GRCm39)	T123M	probably damaging	Het
Cnot1	A	G	8: 96,474,904 (GRCm39)	S1102P	probably damaging	Het
Col12a1	C	A	9: 79,610,733 (GRCm39)	D224Y	probably damaging	Het
Col14a1	T	A	15: 55,208,357 (GRCm39)		probably benign	Het
Cyp7a1	T	A	4: 6,272,848 (GRCm39)	T122S	probably benign	Het
Dock4	A	G	12: 40,857,000 (GRCm39)		probably null	Het
Eid2	T	C	7: 27,967,924 (GRCm39)	V182A	possibly damaging	Het
Eloa	A	T	4: 135,738,081 (GRCm39)	V293D	probably benign	Het
Enkur	G	A	2: 21,199,106 (GRCm39)	P143S	probably damaging	Het
Ep300	T	C	15: 81,510,548 (GRCm39)	Y99H	probably damaging	Het
Fbxw5	C	A	2: 25,393,596 (GRCm39)	L66I	probably benign	Het
Flg2	A	T	3: 93,110,928 (GRCm39)	R985S	unknown	Het
Fscb	A	T	12: 64,521,355 (GRCm39)	I37K	possibly damaging	Het
H2-M10.3	T	C	17: 36,679,296 (GRCm39)	N3S	probably benign	Het
H2-Q7	A	C	17: 35,658,602 (GRCm39)	Y80S	probably damaging	Het
H60c	A	T	10: 3,209,914 (GRCm39)	D124E	possibly damaging	Het
Hsd3b2	A	T	3: 98,618,862 (GRCm39)	V361E	probably damaging	Het
Ice1	A	C	13: 70,754,444 (GRCm39)	C547W	probably damaging	Het
Itprid1	A	T	6: 55,945,289 (GRCm39)	D670V	probably damaging	Het
Jmy	A	G	13: 93,635,303 (GRCm39)	V171A	probably damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Klk1b1	A	T	7: 43,619,783 (GRCm39)	Q114L	probably benign	Het
Krt10	A	G	11: 99,278,213 (GRCm39)	M280T	possibly damaging	Het
Lama1	G	A	17: 68,109,916 (GRCm39)	R2179Q	probably benign	Het
Mbd3l1	C	T	9: 18,396,225 (GRCm39)	P117S	possibly damaging	Het
Med18	A	T	4: 132,187,420 (GRCm39)	S71R	probably damaging	Het
Mov10l1	T	A	15: 88,895,607 (GRCm39)	I643N	possibly damaging	Het
Nr3c2	A	C	8: 77,634,958 (GRCm39)	S20R	probably benign	Het
Nr6a1	A	T	2: 38,628,955 (GRCm39)	F356L	probably benign	Het
Oca2	G	A	7: 55,978,533 (GRCm39)	R567H	probably damaging	Het
Or10k2	A	G	8: 84,268,045 (GRCm39)	S91G	probably benign	Het
Or1e35	T	A	11: 73,797,911 (GRCm39)	M136L	possibly damaging	Het
Or1p1	T	C	11: 74,179,637 (GRCm39)	L55P	probably damaging	Het
Or6c88	T	A	10: 129,406,697 (GRCm39)	Y58N	probably damaging	Het
Or8g33	T	C	9: 39,338,254 (GRCm39)	T38A	probably damaging	Het
Pcdhb10	A	G	18: 37,546,009 (GRCm39)	T362A	probably benign	Het
Pip5k1b	A	T	19: 24,374,404 (GRCm39)	V59E	probably damaging	Het
Pkhd1l1	G	A	15: 44,410,905 (GRCm39)		probably null	Het
Prr36	T	C	8: 4,264,370 (GRCm39)		probably benign	Het
Ptger2	A	G	14: 45,239,228 (GRCm39)	T289A	probably benign	Het
Rad18	A	G	6: 112,658,498 (GRCm39)	F136L	probably damaging	Het
Rhbg	T	A	3: 88,153,181 (GRCm39)	S258C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,739 (GRCm39)	I34M	possibly damaging	Het
Senp7	C	A	16: 55,944,162 (GRCm39)	T135K	probably damaging	Het
Slc20a2	A	G	8: 23,035,582 (GRCm39)	I193M	probably damaging	Het
Slc27a1	G	A	8: 72,023,504 (GRCm39)	V47I	probably benign	Het
Slc9a5	G	A	8: 106,094,766 (GRCm39)	V786M	probably damaging	Het
Smyd1	A	G	6: 71,193,875 (GRCm39)	L350P	probably damaging	Het
Ston2	A	T	12: 91,614,681 (GRCm39)	F576I	probably damaging	Het
Sulf2	A	T	2: 165,924,598 (GRCm39)	V496E	probably benign	Het
Tcl1b3	C	A	12: 105,157,481 (GRCm39)	S41Y	probably damaging	Het
Tulp2	A	T	7: 45,169,201 (GRCm39)	N256I	probably damaging	Het
Uspl1	T	A	5: 149,138,668 (GRCm39)	C349S	probably damaging	Het
Vcl	T	C	14: 21,070,604 (GRCm39)	I730T	probably damaging	Het
Vmn1r61	A	T	7: 5,614,060 (GRCm39)	F85I	probably benign	Het
Zfp318	A	G	17: 46,710,403 (GRCm39)	T709A	probably benign	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably damaging	Het

Other mutations in Nfib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01839:Nfib	APN	4	82,228,607 (GRCm39)	missense	probably benign
R0220:Nfib	UTSW	4	82,215,013 (GRCm39)	missense	probably damaging	0.99
R0309:Nfib	UTSW	4	82,214,974 (GRCm39)	missense	probably damaging	1.00
R0352:Nfib	UTSW	4	82,422,954 (GRCm39)	intron	probably benign
R0466:Nfib	UTSW	4	82,416,775 (GRCm39)	missense	probably damaging	1.00
R1643:Nfib	UTSW	4	82,416,916 (GRCm39)	missense	probably damaging	1.00
R1860:Nfib	UTSW	4	82,241,917 (GRCm39)	missense	probably damaging	1.00
R2069:Nfib	UTSW	4	82,416,852 (GRCm39)	missense	probably damaging	1.00
R2103:Nfib	UTSW	4	82,248,645 (GRCm39)	missense	possibly damaging	0.57
R3429:Nfib	UTSW	4	82,416,532 (GRCm39)	missense	possibly damaging	0.75
R3430:Nfib	UTSW	4	82,416,532 (GRCm39)	missense	possibly damaging	0.75
R3755:Nfib	UTSW	4	82,241,936 (GRCm39)	missense	probably damaging	1.00
R4373:Nfib	UTSW	4	82,241,895 (GRCm39)	missense	probably damaging	0.97
R4433:Nfib	UTSW	4	82,416,672 (GRCm39)	missense	probably damaging	1.00
R4575:Nfib	UTSW	4	82,215,048 (GRCm39)	missense	probably damaging	0.99
R4578:Nfib	UTSW	4	82,215,048 (GRCm39)	missense	probably damaging	0.99
R4719:Nfib	UTSW	4	82,422,967 (GRCm39)	critical splice donor site	probably null
R4752:Nfib	UTSW	4	82,215,016 (GRCm39)	missense	probably damaging	0.97
R4953:Nfib	UTSW	4	82,271,808 (GRCm39)	missense	probably benign	0.20
R5533:Nfib	UTSW	4	82,278,004 (GRCm39)	missense	probably damaging	0.99
R6583:Nfib	UTSW	4	82,416,708 (GRCm39)	missense	probably damaging	1.00
R7055:Nfib	UTSW	4	82,248,662 (GRCm39)	missense	probably benign	0.03
R7162:Nfib	UTSW	4	82,268,677 (GRCm39)	missense	probably damaging	0.97
R7204:Nfib	UTSW	4	82,215,052 (GRCm39)	splice site	probably null
R7462:Nfib	UTSW	4	82,271,826 (GRCm39)	missense	probably benign	0.05
R7465:Nfib	UTSW	4	82,271,758 (GRCm39)	critical splice donor site	probably null
R7764:Nfib	UTSW	4	82,238,731 (GRCm39)	missense	possibly damaging	0.72
R7894:Nfib	UTSW	4	82,246,030 (GRCm39)	missense	probably benign	0.02
R9080:Nfib	UTSW	4	82,623,754 (GRCm39)	missense
R9141:Nfib	UTSW	4	82,416,529 (GRCm39)	missense	probably damaging	1.00
R9426:Nfib	UTSW	4	82,416,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGCAGGCAGTCGATCCTCCTAAT -3'
(R):5'- TTTAAAGGTGTAGATGCGTGGCAATGA -3'

Sequencing Primer
(F):5'- GGCAGTCGATCCTCCTAATCTTAC -3'
(R):5'- ttgtttttctccttttttAGCATTGG -3'

Posted On

2014-05-23