Mutagenetix > Incidental Mutation

Incidental Mutation 'R7246:Nfia'

563530

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 #

R7246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97772734-98118874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98065342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 439 (P439L)

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

probably damaging
Transcript: ENSMUST00000052018
AA Change: P417L

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

SMART Domains

Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: P417L

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

probably damaging
Transcript: ENSMUST00000075448
AA Change: P439L

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

SMART Domains

Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: P439L

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

probably damaging
Transcript: ENSMUST00000092532
AA Change: P396L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: P396L

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: P310L

SMART Domains

Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: P310L

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: P439L

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

SMART Domains

Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: P439L

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

unknown
Transcript: ENSMUST00000148930
AA Change: P269L

SMART Domains

Protein: ENSMUSP00000122641
Gene: ENSMUSG00000028565
AA Change: P269L

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

0.1237

Coding Region Coverage

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

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,902	S318R	probably damaging	Het
Abce1	A	T	8: 79,703,069	N74K	probably damaging	Het
Akr1b7	T	A	6: 34,415,469	D72E	probably benign	Het
Amer3	T	A	1: 34,586,728	I16N	possibly damaging	Het
Atp6v0d1	T	C	8: 105,530,974	N108D	probably damaging	Het
Avpr1b	T	C	1: 131,600,270	V177A	probably damaging	Het
B020011L13Rik	A	T	1: 117,801,239	K159*	probably null	Het
Bpifb1	T	C	2: 154,207,092	L172P	probably damaging	Het
Brca1	G	A	11: 101,523,378	T1310I	probably benign	Het
C130074G19Rik	C	A	1: 184,882,969	R8L	probably damaging	Het
Ccdc178	T	C	18: 22,109,754	H268R	possibly damaging	Het
Cdc42ep5	A	G	7: 4,151,474	V105A	possibly damaging	Het
Cntn4	T	C	6: 106,506,219	L245P	probably damaging	Het
Crtac1	T	C	19: 42,287,926	E521G	probably benign	Het
Cts7	T	A	13: 61,355,580	N190I	probably damaging	Het
Cul7	A	G	17: 46,662,067	E1368G	probably benign	Het
Dpp10	G	A	1: 123,334,377	P759S	probably damaging	Het
Etf1	A	G	18: 34,931,911	S11P	unknown	Het
Exd2	G	T	12: 80,480,535	L167F	probably damaging	Het
Exoc8	T	A	8: 124,896,417	R404*	probably null	Het
Fat2	T	C	11: 55,296,382	T1213A	probably benign	Het
Fgfr2	T	C	7: 130,242,406			Het
Gm4756	A	T	12: 72,619,492	M89K	possibly damaging	Het
Gtf3c1	T	A	7: 125,669,094			Het
Id2	T	A	12: 25,095,821	I64F	probably damaging	Het
Idh3a	G	T	9: 54,592,472	A75S	probably damaging	Het
Itgb8	C	G	12: 119,168,050	G620A	probably damaging	Het
Itih5	T	A	2: 10,187,062		probably null	Het
Lamtor5	A	T	3: 107,282,020	D124V	probably damaging	Het
Mast4	T	C	13: 102,794,003	E439G	probably damaging	Het
Meltf	T	G	16: 31,894,862	L641R	probably damaging	Het
Mesd	G	T	7: 83,892,212		probably benign	Het
Nptx1	A	T	11: 119,544,590		probably null	Het
Olfr1086	A	G	2: 86,677,289	F15L	probably benign	Het
Olfr531	T	A	7: 140,400,148	R299S	probably benign	Het
Olfr847	G	A	9: 19,375,465	Q139*	probably null	Het
Olfr98	A	T	17: 37,263,014	C217S	probably benign	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pik3r5	C	A	11: 68,492,943	S529R	probably benign	Het
Plxna2	T	C	1: 194,644,282	S175P	possibly damaging	Het
Pom121l12	T	A	11: 14,599,551	W86R	probably benign	Het
Ppid	C	T	3: 79,591,433		probably benign	Het
Pramel7	T	A	2: 87,492,165	D85V	probably damaging	Het
Prune2	C	T	19: 17,121,368	T1412I	probably damaging	Het
Ptprd	T	C	4: 76,128,676	Y204C	probably damaging	Het
Rasgrp1	G	A	2: 117,338,354	R48*	probably null	Het
Rbks	A	G	5: 31,647,783	S246P	possibly damaging	Het
Rnf113a2	G	T	12: 84,417,677	M114I	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,579,922		probably benign	Het
Scara3	A	G	14: 65,931,644	S175P	probably damaging	Het
Slc4a4	T	A	5: 89,122,403	L261Q	probably damaging	Het
Sparcl1	T	C	5: 104,085,157	I593V	probably benign	Het
Suclg1	C	T	6: 73,276,713	H115Y	unknown	Het
Syde2	T	A	3: 145,988,755	C253S	probably benign	Het
Tecrl	A	T	5: 83,279,335	I322N	probably damaging	Het
Tesmin	C	T	19: 3,406,965	A428V	probably damaging	Het
Thbd	T	A	2: 148,406,485	T488S	probably benign	Het
Tln2	A	T	9: 67,262,979	V876E	probably damaging	Het
Ttc30a2	A	G	2: 75,977,679	L163P	probably damaging	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Unc13b	T	A	4: 43,172,910	I1246K	unknown	Het
Usp47	T	A	7: 112,115,909			Het
Vmn1r192	C	T	13: 22,187,774	R92Q	probably damaging	Het
Vmn2r111	T	C	17: 22,548,714	T601A	probably damaging	Het
Vmn2r51	A	G	7: 10,102,501	F118L	probably benign	Het
Vmn2r74	T	A	7: 85,955,965	I492L	probably benign	Het
Vmn2r93	C	T	17: 18,325,750	T628I	possibly damaging	Het
Vps13d	C	T	4: 145,156,050	R991K		Het
Wdr5b	T	C	16: 36,041,936	S142P	probably damaging	Het
Zfp428	G	T	7: 24,515,644		probably null	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
R7669:Nfia	UTSW	4	97783505	missense	probably damaging	0.96
R8247:Nfia	UTSW	4	98065407	missense	probably benign	0.01
R8864:Nfia	UTSW	4	98063145	missense	possibly damaging	0.69
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'- ACCAGAGTACTCCGGACATG -3'
(R):5'- AGGTGTGAACTCAAGTGCATG -3'

Sequencing Primer
(F):5'- ACAATCACTGTGTTTCCAACGG -3'
(R):5'- GCATGGAGCATGGTAAGTAACC -3'

Posted On

2019-06-26