Mutagenetix > Incidental Mutation

Incidental Mutation 'R7162:Nfib'

557635

Institutional Source

Beutler Lab

Gene Symbol

Nfib

Ensembl Gene

ENSMUSG00000008575

Gene Name

nuclear factor I/B

Synonyms

6720429L07Rik, E030026I10Rik

MMRRC Submission

045261-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82208410-82424988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82268677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 292 (S292A)

Ref Sequence

ENSEMBL: ENSMUSP00000052863 (fasta)

Gene Model

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

AlphaFold

P97863

Predicted Effect

probably damaging
Transcript: ENSMUST00000050872
AA Change: S292A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: S292A

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: S292A

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

SMART Domains

Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575
AA Change: S292A

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: S291A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: S291A

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: S291A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: S291A

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: S291A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: S291A

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: S291A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: S291A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (85/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	T	1: 87,055,471 (GRCm39)	T506I	unknown	Het
Ank1	T	C	8: 23,622,370 (GRCm39)	W1640R	possibly damaging	Het
Atp2a2	A	G	5: 122,627,387 (GRCm39)	M126T	probably benign	Het
Bptf	A	T	11: 106,934,457 (GRCm39)		probably null	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
Cables1	T	C	18: 12,059,423 (GRCm39)		probably null	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Cacna1b	A	C	2: 24,590,034 (GRCm39)	I558S	probably benign	Het
Ccdc166	A	G	15: 75,853,044 (GRCm39)	S308P	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfhr2	A	G	1: 139,741,264 (GRCm39)	V237A	probably benign	Het
Clybl	C	A	14: 122,608,732 (GRCm39)	S108*	probably null	Het
Cubn	A	G	2: 13,347,309 (GRCm39)	Y2070H	probably damaging	Het
Cyp8b1	A	G	9: 121,744,777 (GRCm39)	F185S	probably damaging	Het
Dennd2c	T	A	3: 103,063,423 (GRCm39)	V620D	probably damaging	Het
Dis3l2	T	C	1: 86,971,752 (GRCm39)	F597L	possibly damaging	Het
Eif3f	G	A	7: 108,539,938 (GRCm39)	R282H	probably benign	Het
Ell	C	A	8: 71,031,559 (GRCm39)	R86S	possibly damaging	Het
Eppk1	A	G	15: 75,990,809 (GRCm39)	V2024A	possibly damaging	Het
Exoc6	T	C	19: 37,565,566 (GRCm39)	I214T	probably damaging	Het
Faim2	A	G	15: 99,419,048 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,168,306 (GRCm39)	S516P	probably benign	Het
Gm18596	A	T	10: 77,578,034 (GRCm39)	S147T	unknown	Het
Gm19965	A	G	1: 116,750,095 (GRCm39)	Y592C	unknown	Het
Gng12	T	C	6: 66,994,285 (GRCm39)	S36P	unknown	Het
Gramd2b	G	A	18: 56,618,529 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,624,744 (GRCm39)	T1054S	probably benign	Het
Ifngr1	A	G	10: 19,485,101 (GRCm39)	T367A	probably benign	Het
Il21r	G	T	7: 125,231,483 (GRCm39)	V304L	probably benign	Het
Ino80d	G	A	1: 63,104,894 (GRCm39)	T394M	probably damaging	Het
Itfg2	C	T	6: 128,387,546 (GRCm39)	V380M	probably damaging	Het
Kcna5	C	T	6: 126,510,806 (GRCm39)	V441I	possibly damaging	Het
Kcp	T	A	6: 29,497,199 (GRCm39)		probably null	Het
Kdf1	C	T	4: 133,257,229 (GRCm39)	T375I	unknown	Het
Klk1b1	A	T	7: 43,618,671 (GRCm39)	D16V	probably damaging	Het
Krtap5-4	A	C	7: 141,857,335 (GRCm39)	T2P	unknown	Het
Lamtor1	A	G	7: 101,555,243 (GRCm39)	D13G	probably benign	Het
Lrp10	T	C	14: 54,703,163 (GRCm39)	V72A	possibly damaging	Het
Lrrc1	C	A	9: 77,339,472 (GRCm39)	A503S	probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Myo5b	C	G	18: 74,828,498 (GRCm39)	L717V	probably benign	Het
Myoz3	T	A	18: 60,709,485 (GRCm39)	R225S	probably damaging	Het
Myrf	A	G	19: 10,196,010 (GRCm39)	F335L	possibly damaging	Het
Notch3	G	T	17: 32,365,423 (GRCm39)	H1096Q	probably damaging	Het
Nt5c1a	A	G	4: 123,107,898 (GRCm39)	R194G	probably benign	Het
Or10d3	A	G	9: 39,461,525 (GRCm39)	I214T	probably damaging	Het
Or5a1	A	G	19: 12,097,501 (GRCm39)	F192L	possibly damaging	Het
Parp4	A	G	14: 56,886,333 (GRCm39)	E1804G	unknown	Het
Pcdhac2	A	T	18: 37,278,840 (GRCm39)	I607L	probably benign	Het
Pcdhb5	A	G	18: 37,454,739 (GRCm39)	D373G	probably benign	Het
Pcf11	A	T	7: 92,313,221 (GRCm39)	V154E	probably damaging	Het
Pdia3	T	G	2: 121,260,002 (GRCm39)	D180E	probably benign	Het
Piezo2	C	A	18: 63,257,780 (GRCm39)	V313F	possibly damaging	Het
Pik3ap1	C	A	19: 41,309,965 (GRCm39)	A452S	probably benign	Het
Plb1	A	G	5: 32,507,007 (GRCm39)	K1194R	probably benign	Het
Pld3	A	C	7: 27,231,899 (GRCm39)	W431G	probably damaging	Het
Plekha3	T	C	2: 76,523,110 (GRCm39)		probably null	Het
Ppm1f	G	T	16: 16,732,057 (GRCm39)	R169L	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,673 (GRCm38)	V60A		Het
Prop1	T	A	11: 50,842,881 (GRCm39)	D102V	probably damaging	Het
Rbm27	G	A	18: 42,447,092 (GRCm39)	G446R	unknown	Het
Rc3h2	C	A	2: 37,299,617 (GRCm39)	V138L	possibly damaging	Het
Rorc	G	A	3: 94,284,915 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sart3	A	G	5: 113,900,896 (GRCm39)	Y181H	probably damaging	Het
Sbpl	A	T	17: 24,172,439 (GRCm39)	M160K	possibly damaging	Het
Sh3gl3	A	G	7: 81,933,350 (GRCm39)	S238G	probably benign	Het
Slc22a30	A	G	19: 8,314,081 (GRCm39)		probably null	Het
Slc3a1	A	T	17: 85,371,442 (GRCm39)	R665*	probably null	Het
Stk32a	C	A	18: 43,430,649 (GRCm39)	Y186*	probably null	Het
Stxbp6	T	C	12: 44,949,663 (GRCm39)	N89D	probably benign	Het
Svep1	A	G	4: 58,070,262 (GRCm39)	F2508S	possibly damaging	Het
Tas1r1	A	G	4: 152,116,695 (GRCm39)	V313A	possibly damaging	Het
Tmem81	T	C	1: 132,435,355 (GRCm39)	Y54H	probably damaging	Het
Tmtc1	T	C	6: 148,172,985 (GRCm39)	N582S	probably damaging	Het
Top2b	T	C	14: 16,416,653 (GRCm38)	S1138P	probably benign	Het
Trim24	T	A	6: 37,942,456 (GRCm39)	N989K	possibly damaging	Het
Trim72	T	A	7: 127,606,821 (GRCm39)	M145K	probably benign	Het
Ttll9	T	A	2: 152,831,523 (GRCm39)	S154T	probably damaging	Het
Tusc3	T	C	8: 39,593,741 (GRCm39)	V286A	probably benign	Het
Vat1l	C	A	8: 114,963,518 (GRCm39)	H185N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,128 (GRCm39)	D187E	probably damaging	Het
Vmn2r87	T	C	10: 130,313,416 (GRCm39)	N450S	probably benign	Het
Wdr7	T	A	18: 63,857,210 (GRCm39)	D95E	possibly damaging	Het
Zfp937	C	T	2: 150,081,439 (GRCm39)	H490Y	probably benign	Het
Zfp974	A	T	7: 27,610,944 (GRCm39)	H260Q	possibly 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
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
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'- TGATAACATGTGACCACTCTGG -3'
(R):5'- ATGGATGTCTGGAATACCCACC -3'

Sequencing Primer
(F):5'- CCAGGAATGGTGACTAAGTG -3'
(R):5'- ATGTCTGGAATACCCACCATTCTTTC -3'

Posted On

2019-06-26