Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Nfia'

675804

Institutional Source

Beutler Lab

Gene Symbol

Nfia

Ensembl Gene

ENSMUSG00000028565

Gene Name

nuclear factor I/A

Synonyms

9430022M17Rik, NF1-A, 1110047K16Rik, NF1A

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97772734-98118874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98063145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 403 (V403A)

Ref Sequence

ENSEMBL: ENSMUSP00000074899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052018] [ENSMUST00000075448] [ENSMUST00000092532] [ENSMUST00000107057] [ENSMUST00000107062]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052018
AA Change: V381A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: V381A

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	1.6e-31	PFAM
DWA	67	175	2.4e-21	SMART
Pfam:CTF_NFI	192	487	7.3e-150	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075448
AA Change: V403A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: V403A

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	6	46	5.6e-30	PFAM
DWA	67	175	2.4e-21	SMART
low complexity region	186	201	N/A	INTRINSIC
Pfam:CTF_NFI	214	508	1.8e-135	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092532
AA Change: V360A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: V360A

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	1.2e-30	PFAM
DWA	67	175	2.4e-21	SMART
low complexity region	186	201	N/A	INTRINSIC
Pfam:CTF_NFI	214	318	4.1e-48	PFAM
Pfam:CTF_NFI	315	466	1.5e-78	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000107057
AA Change: V274A

SMART Domains

Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: V274A

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	1.2e-31	PFAM
DWA	67	175	2.4e-21	SMART
Pfam:CTF_NFI	180	380	7.8e-96	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107062
AA Change: V403A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: V403A

Domain	Start	End	E-Value	Type
Pfam:NfI_DNAbd_pre-N	3	46	1.7e-31	PFAM
DWA	67	175	2.4e-21	SMART
low complexity region	186	201	N/A	INTRINSIC
Pfam:CTF_NFI	214	494	6.2e-128	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122641
Gene: ENSMUSG00000028565
AA Change: V233A

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:CTF_NFI	45	274	1.5e-102	PFAM

Meta Mutation Damage Score

0.1312

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display perinatal lethality, hydrocephalus, agenesis of the corpus callosum and hippocampal commissure. Fertility is surviving homozygotes is compromised. A decrease in the number of heterozygous animals is associated with a maternal effect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,890,425	C297*	probably null	Het
Adamts3	T	C	5: 89,707,122		probably benign	Het
Best2	T	A	8: 85,009,313	M331L	probably benign	Het
Cachd1	T	A	4: 100,994,829	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,333,778	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,121,513	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,762,642	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,426,532	V252A	probably benign	Het
Ergic2	A	G	6: 148,181,895	V355A	probably benign	Het
F13a1	C	T	13: 36,877,779	G670D	probably damaging	Het
Gfpt1	T	A	6: 87,054,623	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,840,076	R376C	probably damaging	Het
Gm30302	T	C	13: 49,787,512	N241D	probably benign	Het
Grn	T	C	11: 102,436,385	F191L	unknown	Het
Ighv1-16	C	T	12: 114,665,999	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,321	D445G	probably benign	Het
Loxl3	A	G	6: 83,035,758	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,112,706	A2094T		Het
Lrriq3	T	A	3: 155,187,938	D425E	probably damaging	Het
Majin	T	C	19: 6,211,620	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 24,899,518	V1192E	probably damaging	Het
Mdga1	T	C	17: 29,931,321	S106G	unknown	Het
Mtch2	C	T	2: 90,854,930	R135*	probably null	Het
Naip1	T	C	13: 100,426,320	N779S	possibly damaging	Het
Npas4	C	A	19: 4,988,528	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,909,893	R231W	probably damaging	Het
Rangap1	C	G	15: 81,726,069		probably benign	Het
Rgs5	T	A	1: 169,690,421	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,306	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 47,547,841		probably benign	Het
Setd5	G	A	6: 113,111,508	R199H	probably damaging	Het
Spef2	T	C	15: 9,599,747	Q2004R	unknown	Het
Syne1	T	C	10: 5,420,473	K236E	probably benign	Het
Tas2r104	A	G	6: 131,685,669	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 56,087,559	E954D	probably benign	Het
Tenm2	A	C	11: 36,027,195	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,330,552	Y32*	probably null	Het
Tnc	C	T	4: 63,993,059	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724	C1851R	unknown	Het
Wapl	T	A	14: 34,692,202	D340E	probably benign	Het
Zfp74	T	C	7: 29,934,810	E491G	probably damaging	Het

Other mutations in Nfia

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Nfia	APN	4	98065386	missense	probably damaging	0.97
IGL02663:Nfia	APN	4	98041619	missense	probably benign	0.14
IGL02691:Nfia	APN	4	98081808	nonsense	probably null
IGL02705:Nfia	APN	4	97783368	missense	probably damaging	1.00
IGL03226:Nfia	APN	4	98063049	missense	probably damaging	0.97
R0400:Nfia	UTSW	4	98063136	missense	probably damaging	0.96
R0611:Nfia	UTSW	4	97783457	missense	possibly damaging	0.75
R1568:Nfia	UTSW	4	98111224	missense	possibly damaging	0.93
R1716:Nfia	UTSW	4	98063128	missense	probably damaging	0.98
R3855:Nfia	UTSW	4	98063022	missense	probably damaging	1.00
R4038:Nfia	UTSW	4	98020837	missense	probably damaging	1.00
R4441:Nfia	UTSW	4	97772913	critical splice donor site	probably null
R4849:Nfia	UTSW	4	98081811	missense	probably damaging	1.00
R5184:Nfia	UTSW	4	97783348	missense	probably damaging	0.99
R5201:Nfia	UTSW	4	98111225	missense	probably damaging	0.98
R5254:Nfia	UTSW	4	98014297	missense	probably damaging	0.99
R5391:Nfia	UTSW	4	97783301	missense	probably damaging	0.96
R5551:Nfia	UTSW	4	98014260	missense	probably damaging	0.98
R5794:Nfia	UTSW	4	97783601	missense	possibly damaging	0.92
R5905:Nfia	UTSW	4	98111251	missense	possibly damaging	0.82
R5965:Nfia	UTSW	4	98111292	makesense	probably null
R6028:Nfia	UTSW	4	98111251	missense	possibly damaging	0.82
R7246:Nfia	UTSW	4	98065342	missense	probably damaging	1.00
R7669:Nfia	UTSW	4	97783505	missense	probably damaging	0.96
R8247:Nfia	UTSW	4	98065407	missense	probably benign	0.01
R8916:Nfia	UTSW	4	98000430	missense	probably benign	0.24
R9175:Nfia	UTSW	4	97783125	missense	probably damaging	1.00
R9691:Nfia	UTSW	4	97783228	missense	probably damaging	0.99
X0018:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0019:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0020:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0021:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0022:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0023:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0024:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0027:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0050:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0052:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0053:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0054:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0057:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0058:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0060:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0061:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0062:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0063:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0064:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0065:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0066:Nfia	UTSW	4	98041655	missense	probably damaging	0.97
X0067:Nfia	UTSW	4	98041655	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTTCTCCAAACCCCTGACGG -3'
(R):5'- TTTAAATCCCGGCCAATCCC -3'

Sequencing Primer
(F):5'- AAACCCCTGACGGTTGCTG -3'
(R):5'- ATATGACATTTGCCTGCAGTCAGTC -3'

Posted On

2021-07-15