Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Nfib'

173662

Institutional Source

Beutler Lab

Gene Symbol

Nfib

Ensembl Gene

ENSMUSG00000008575

Gene Name

nuclear factor I/B

Synonyms

6720429L07Rik, E030026I10Rik

MMRRC Submission

039679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82208410-82424988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82416916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 40 (Y40N)

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: Y41N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: Y41N

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: Y41N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575
AA Change: Y41N

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: Y40N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: Y40N

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: Y40N

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

SMART Domains

Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: Y40N

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: Y40N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: Y40N

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: Y40N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: Y40N

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

possibly damaging
Transcript: ENSMUST00000155821
AA Change: Y56N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123169
Gene: ENSMUSG00000008575
AA Change: Y56N

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: ENSMUST00000152588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148982

Meta Mutation Damage Score

0.8956

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,942 (GRCm39)	K45*	probably null	Het
Abcc1	T	A	16: 14,231,232 (GRCm39)	Y457N	probably damaging	Het
Actr3b	A	G	5: 26,017,009 (GRCm39)	D19G	probably damaging	Het
Adam39	T	C	8: 41,279,523 (GRCm39)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,593,705 (GRCm39)		probably benign	Het
AI661453	A	G	17: 47,778,791 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,720,632 (GRCm39)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm39)	E267G	probably benign	Het
Casr	T	C	16: 36,320,567 (GRCm39)	K527R	probably damaging	Het
Cep128	A	C	12: 91,292,306 (GRCm39)	S248A	probably damaging	Het
Clic4	A	G	4: 134,966,206 (GRCm39)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm39)	A36V	probably benign	Het
Derl1	T	A	15: 57,741,955 (GRCm39)	M127L	probably benign	Het
Dnah6	A	G	6: 73,021,735 (GRCm39)	V3529A	possibly damaging	Het
Dock1	G	T	7: 134,700,508 (GRCm39)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,437,695 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,589,804 (GRCm39)	T134S	probably benign	Het
Ephb1	A	G	9: 101,874,024 (GRCm39)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,921,324 (GRCm39)	T187I	probably benign	Het
Gas6	T	C	8: 13,515,902 (GRCm39)		probably null	Het
Gdf7	T	C	12: 8,347,971 (GRCm39)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,770,623 (GRCm39)	G187E	unknown	Het
Gm8674	T	C	13: 50,055,394 (GRCm39)		noncoding transcript	Het
Ift80	T	A	3: 68,823,490 (GRCm39)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,427,804 (GRCm39)	S10L	unknown	Het
Keg1	A	G	19: 12,696,406 (GRCm39)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,187,034 (GRCm39)		probably null	Het
Klhl11	A	G	11: 100,353,841 (GRCm39)	V660A	probably benign	Het
Lamc1	T	C	1: 153,133,818 (GRCm39)		probably benign	Het
Lrrc73	G	T	17: 46,566,266 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,050,685 (GRCm39)	S689L	probably benign	Het
Magi2	A	G	5: 20,910,504 (GRCm39)		probably benign	Het
Meis1	A	G	11: 18,966,278 (GRCm39)	S32P	probably benign	Het
Mia2	A	G	12: 59,226,631 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,869,456 (GRCm39)	L486P	probably damaging	Het
Myh10	A	G	11: 68,682,836 (GRCm39)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,696,005 (GRCm39)	S247P	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,331,712 (GRCm39)	Y636C	probably damaging	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Nisch	T	C	14: 30,895,125 (GRCm39)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,791,041 (GRCm39)	H475R	probably benign	Het
Pde6c	C	A	19: 38,150,406 (GRCm39)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,215,986 (GRCm39)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,564,351 (GRCm39)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,150,828 (GRCm39)	V46G	probably damaging	Het
Pole	A	G	5: 110,465,711 (GRCm39)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,896,114 (GRCm39)	S88G	possibly damaging	Het
Prodh	T	A	16: 17,898,933 (GRCm39)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,375,930 (GRCm39)	R907C	probably damaging	Het
Ptger2	T	A	14: 45,226,423 (GRCm39)	M1K	probably null	Het
Samd4b	G	C	7: 28,123,041 (GRCm39)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,595,212 (GRCm39)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,835,947 (GRCm39)	D865E	probably benign	Het
Slc17a3	T	C	13: 24,041,181 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,871,529 (GRCm39)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,035,307 (GRCm39)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,475,110 (GRCm39)		probably benign	Het
Tcof1	T	G	18: 60,949,300 (GRCm39)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,729,530 (GRCm39)	R325C	probably damaging	Het
Trub2	T	G	2: 29,667,948 (GRCm39)	T231P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm39)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,301,170 (GRCm39)	D724G	probably damaging	Het
Wdfy3	A	G	5: 102,023,781 (GRCm39)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 32,795,542 (GRCm39)		probably null	Het
Zfp280b	A	G	10: 75,875,444 (GRCm39)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,436,400 (GRCm39)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,717,028 (GRCm39)	L406S	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
R1737:Nfib	UTSW	4	82,416,826 (GRCm39)	missense	probably damaging	0.99
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'- CAGTCACGGTAAGCACAAAGTCCTC -3'
(R):5'- ATGAACTGTGCCATCGCTCCTG -3'

Sequencing Primer
(F):5'- AAAGTCCTCCCGGTACTCCTG -3'
(R):5'- TTCTCCGTAGGAGAGAGAGCC -3'

Posted On

2014-04-24