Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02691:Nfia'

303727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfia

Ensembl Gene

ENSMUSG00000028565

Gene Name

nuclear factor I/A

Synonyms

9430022M17Rik, NF1-A, 1110047K16Rik, NF1A

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

97772734-98118874 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 98081808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 373 (Q373*)

Ref Sequence

ENSEMBL: ENSMUSP00000102672 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000052018
AA Change: Q480*

SMART Domains

Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: Q480*

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 null
Transcript: ENSMUST00000075448
AA Change: Q502*

SMART Domains

Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: Q502*

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 null
Transcript: ENSMUST00000092532
AA Change: Q459*

SMART Domains

Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: Q459*

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

probably null
Transcript: ENSMUST00000107057
AA Change: Q373*

SMART Domains

Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: Q373*

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 benign
Transcript: ENSMUST00000107062

SMART Domains

Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565

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

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,761,664	S40P	probably benign	Het
Actl9	G	T	17: 33,433,118	V51L	probably damaging	Het
Adcy6	A	T	15: 98,604,304	F143Y	probably damaging	Het
Agps	A	T	2: 75,891,860	I465F	probably benign	Het
Armc3	T	A	2: 19,235,484	F17L	probably damaging	Het
Arsk	A	C	13: 76,074,950	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,557	T212I	probably damaging	Het
Atp6v1a	A	G	16: 44,111,619	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,902,645	L2Q	unknown	Het
Cad	A	G	5: 31,055,294	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,486,613	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,552,090	I834T	probably benign	Het
Cyp2j12	C	T	4: 96,132,994		probably null	Het
Dhx8	G	A	11: 101,752,004		probably benign	Het
Dync1i1	A	G	6: 5,800,767		probably benign	Het
Ell2	T	A	13: 75,756,486	D99E	probably damaging	Het
Enpp1	G	T	10: 24,711,892	P34T	probably damaging	Het
Fras1	T	A	5: 96,744,705	V2888E	possibly damaging	Het
Gm10451	T	C	12: 76,451,299		noncoding transcript	Het
Gmfg	A	G	7: 28,444,870	Y40C	probably damaging	Het
Gnal	T	C	18: 67,222,675	I369T	probably damaging	Het
Gzmn	T	C	14: 56,166,913	T156A	probably benign	Het
H2-DMb2	A	T	17: 34,147,858	H88L	probably benign	Het
Ighv7-3	T	C	12: 114,153,396	T49A	probably benign	Het
Jakmip3	C	T	7: 139,026,844	Q450*	probably null	Het
Klhl20	A	T	1: 161,106,874		probably benign	Het
Klk6	A	G	7: 43,828,500	T99A	probably benign	Het
Lhx3	A	G	2: 26,203,085	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,973,174		probably benign	Het
Naa15	A	G	3: 51,451,326	E294G	probably damaging	Het
Notch2	C	A	3: 98,135,607	Y1429*	probably null	Het
Oc90	A	G	15: 65,882,561	S252P	probably damaging	Het
Olfr1084	T	C	2: 86,638,838	Y290C	probably damaging	Het
Olfr681	A	G	7: 105,122,131	I225V	probably damaging	Het
Pde3b	T	A	7: 114,508,085		probably benign	Het
Pdss1	G	A	2: 22,915,241	V211I	probably benign	Het
Phactr1	G	T	13: 43,077,737	M226I	probably benign	Het
Phf11c	A	G	14: 59,384,787	S259P	probably damaging	Het
Phf20l1	A	G	15: 66,604,864	N269S	probably damaging	Het
Piezo1	A	G	8: 122,501,949	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,710,963	K997R	probably benign	Het
Ppm1m	A	T	9: 106,195,369	V449E	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rgs14	A	G	13: 55,379,023		probably null	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Scamp5	G	T	9: 57,451,377	R39S	probably damaging	Het
Slc5a6	C	T	5: 31,042,174	V15I	probably damaging	Het
Snx25	A	T	8: 46,105,265	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,843,852	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544	R1593G	probably benign	Het
Trdv2-2	T	C	14: 53,961,582	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,734,752	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,660,248	L592R	probably damaging	Het
Vipr2	T	A	12: 116,136,229	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,395,258	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,024,388	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,451,858	I619T	probably benign	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
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
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

Posted On

2015-04-16