Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Nfia'

175409

Institutional Source

Beutler Lab

Gene Symbol

Nfia

Ensembl Gene

ENSMUSG00000028565

Gene Name

nuclear factor I/A

Synonyms

9430022M17Rik, NF1-A, 1110047K16Rik, NF1A

MMRRC Submission

039607-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97772734-98118874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98111224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 378 (Y378D)

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

possibly damaging
Transcript: ENSMUST00000052018
AA Change: Y485D

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: Y485D

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 benign
Transcript: ENSMUST00000075448
AA Change: Y507D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: Y507D

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 benign
Transcript: ENSMUST00000092532
AA Change: Y464D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: Y464D

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

possibly damaging
Transcript: ENSMUST00000107057
AA Change: Y378D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: Y378D

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

possibly damaging
Transcript: ENSMUST00000107062
AA Change: V476G

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: V476G

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

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		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
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

Predicted Primers

PCR Primer
(F):5'- AAGATAGCCAGGTTCCTTGCCCTC -3'
(R):5'- GCCTTTGCTGTTTGACCACGATG -3'

Sequencing Primer
(F):5'- ATTGGCTCACTACAGGGTTAC -3'
(R):5'- GACCACGATGTTTGCTGTTTC -3'

Posted On

2014-04-24