Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01976:Nfat5'

182662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfat5

Ensembl Gene

ENSMUSG00000003847

Gene Name

nuclear factor of activated T cells 5

Synonyms

OREBP, B130038B15Rik, nfatz, TonEBP

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

IGL01976

Quality Score

Status

Chromosome

Chromosomal Location

108020102-108106149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108094191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 793 (V793I)

Ref Sequence

ENSEMBL: ENSMUSP00000116094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075922] [ENSMUST00000077440] [ENSMUST00000125721] [ENSMUST00000133026] [ENSMUST00000144100] [ENSMUST00000147588] [ENSMUST00000151114] [ENSMUST00000169453] [ENSMUST00000154474]

AlphaFold

Q9WV30

Predicted Effect

probably damaging
Transcript: ENSMUST00000075922
AA Change: V793I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: V793I

Domain	Start	End	E-Value	Type
low complexity region	52	98	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
Pfam:RHD	282	439	7.8e-23	PFAM
IPT	444	542	3.33e-15	SMART
low complexity region	647	653	N/A	INTRINSIC
low complexity region	734	754	N/A	INTRINSIC
low complexity region	793	810	N/A	INTRINSIC
low complexity region	898	910	N/A	INTRINSIC
low complexity region	915	920	N/A	INTRINSIC
low complexity region	963	977	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077440
AA Change: V717I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
AA Change: V717I

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	103	116	N/A	INTRINSIC
Pfam:RHD	206	363	1.5e-22	PFAM
IPT	368	466	3.33e-15	SMART
low complexity region	571	577	N/A	INTRINSIC
low complexity region	658	678	N/A	INTRINSIC
low complexity region	717	734	N/A	INTRINSIC
low complexity region	822	834	N/A	INTRINSIC
low complexity region	839	844	N/A	INTRINSIC
low complexity region	887	901	N/A	INTRINSIC
internal_repeat_2	927	1110	7.13e-8	PROSPERO
internal_repeat_1	935	1128	2.59e-11	PROSPERO
internal_repeat_2	1122	1324	7.13e-8	PROSPERO
internal_repeat_1	1207	1426	2.59e-11	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000125721
AA Change: V793I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: V793I

Domain	Start	End	E-Value	Type
low complexity region	52	98	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
Pfam:RHD	282	439	1e-22	PFAM
IPT	444	542	3.33e-15	SMART
low complexity region	647	653	N/A	INTRINSIC
low complexity region	734	754	N/A	INTRINSIC
low complexity region	793	810	N/A	INTRINSIC
low complexity region	898	910	N/A	INTRINSIC
low complexity region	915	920	N/A	INTRINSIC
low complexity region	963	977	N/A	INTRINSIC
internal_repeat_2	1003	1186	2.22e-8	PROSPERO
internal_repeat_1	1011	1204	5.31e-12	PROSPERO
internal_repeat_2	1198	1400	2.22e-8	PROSPERO
internal_repeat_1	1283	1502	5.31e-12	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126397

Predicted Effect

probably benign
Transcript: ENSMUST00000133026

SMART Domains

Protein: ENSMUSP00000116631
Gene: ENSMUSG00000003847

Domain	Start	End	E-Value	Type
low complexity region	70	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144100

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147588
AA Change: V292I

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122871
Gene: ENSMUSG00000003847
AA Change: V292I

Domain	Start	End	E-Value	Type
Blast:IPT	1	42	3e-20	BLAST
PDB:1IMH\|D	1	44	2e-20	PDB
SCOP:d1bfta_	1	44	3e-14	SMART
low complexity region	146	152	N/A	INTRINSIC
low complexity region	233	253	N/A	INTRINSIC
low complexity region	292	309	N/A	INTRINSIC
low complexity region	397	409	N/A	INTRINSIC
low complexity region	414	419	N/A	INTRINSIC
low complexity region	462	476	N/A	INTRINSIC
internal_repeat_2	502	685	1.17e-6	PROSPERO
internal_repeat_1	510	703	1.39e-9	PROSPERO
internal_repeat_2	697	899	1.17e-6	PROSPERO
internal_repeat_1	782	1001	1.39e-9	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000151114
AA Change: V811I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: V811I

Domain	Start	End	E-Value	Type
low complexity region	70	116	N/A	INTRINSIC
low complexity region	197	210	N/A	INTRINSIC
Pfam:RHD_DNA_bind	300	457	1.1e-22	PFAM
IPT	462	560	3.33e-15	SMART
low complexity region	665	671	N/A	INTRINSIC
low complexity region	752	772	N/A	INTRINSIC
low complexity region	811	828	N/A	INTRINSIC
low complexity region	916	928	N/A	INTRINSIC
low complexity region	933	938	N/A	INTRINSIC
low complexity region	981	995	N/A	INTRINSIC
internal_repeat_2	1021	1204	2.24e-8	PROSPERO
internal_repeat_1	1029	1222	5.32e-12	PROSPERO
internal_repeat_2	1216	1418	2.24e-8	PROSPERO
internal_repeat_1	1301	1520	5.32e-12	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000169453
AA Change: V811I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: V811I

Domain	Start	End	E-Value	Type
low complexity region	70	116	N/A	INTRINSIC
low complexity region	197	210	N/A	INTRINSIC
Pfam:RHD_DNA_bind	300	457	1.1e-22	PFAM
IPT	462	560	3.33e-15	SMART
low complexity region	665	671	N/A	INTRINSIC
low complexity region	752	772	N/A	INTRINSIC
low complexity region	811	828	N/A	INTRINSIC
low complexity region	916	928	N/A	INTRINSIC
low complexity region	933	938	N/A	INTRINSIC
low complexity region	981	995	N/A	INTRINSIC
internal_repeat_2	1021	1204	2.24e-8	PROSPERO
internal_repeat_1	1029	1222	5.32e-12	PROSPERO
internal_repeat_2	1216	1418	2.24e-8	PROSPERO
internal_repeat_1	1301	1520	5.32e-12	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000154474

SMART Domains

Protein: ENSMUSP00000115036
Gene: ENSMUSG00000003847

Domain	Start	End	E-Value	Type
low complexity region	52	70	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one of several knock-out allele exhibit lethality between E14.5 and E17.5 as well as around P10 with kidney, cardiac or immune defects depending on the allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,599,647 (GRCm39)	V1960A	possibly damaging	Het
Asph	A	T	4: 9,475,471 (GRCm39)	N537K	probably damaging	Het
Bnip2	T	C	9: 69,908,116 (GRCm39)		probably benign	Het
Cc2d2a	C	A	5: 43,840,457 (GRCm39)	Q104K	probably benign	Het
Cd300ld	A	G	11: 114,878,270 (GRCm39)	S81P	probably damaging	Het
Clec4a1	T	C	6: 122,905,033 (GRCm39)		probably benign	Het
Dnajb8	T	C	6: 88,199,508 (GRCm39)	S15P	probably damaging	Het
Erp27	C	A	6: 136,896,987 (GRCm39)	V72L	probably damaging	Het
Gpr156	A	G	16: 37,799,395 (GRCm39)	T131A	probably damaging	Het
Grk1	T	C	8: 13,465,993 (GRCm39)	V479A	probably damaging	Het
H2bc1	T	A	13: 24,117,982 (GRCm39)	D53V	possibly damaging	Het
Hspg2	A	G	4: 137,289,237 (GRCm39)	D3784G	probably damaging	Het
Irf2	A	T	8: 47,260,260 (GRCm39)	K26M	probably damaging	Het
Irx6	C	A	8: 93,402,717 (GRCm39)	C27*	probably null	Het
Izumo1r	C	T	9: 14,812,975 (GRCm39)	C99Y	probably damaging	Het
Klrb1a	T	A	6: 128,595,072 (GRCm39)	T132S	probably benign	Het
Mmp13	C	T	9: 7,278,974 (GRCm39)		probably benign	Het
Myo5b	G	A	18: 74,831,348 (GRCm39)	R766Q	probably damaging	Het
Myt1	T	C	2: 181,437,532 (GRCm39)	L81P	probably damaging	Het
Nup210	A	G	6: 91,030,596 (GRCm39)	V108A	possibly damaging	Het
Omd	T	A	13: 49,743,119 (GRCm39)	Y56*	probably null	Het
Or4b1d	A	G	2: 89,969,268 (GRCm39)	S72P	probably damaging	Het
Pramel27	A	G	4: 143,579,363 (GRCm39)	N316S	probably benign	Het
Psmd9	A	G	5: 123,372,697 (GRCm39)	E60G	probably damaging	Het
Rab11fip1	T	C	8: 27,642,825 (GRCm39)	E658G	possibly damaging	Het
Smchd1	T	A	17: 71,701,720 (GRCm39)	K1091*	probably null	Het
Supt16	A	T	14: 52,419,764 (GRCm39)	N111K	possibly damaging	Het
Trrap	A	G	5: 144,793,799 (GRCm39)	T3666A	probably benign	Het
Ttn	T	C	2: 76,616,095 (GRCm39)	D8289G	probably damaging	Het
Ush2a	T	A	1: 188,643,438 (GRCm39)	S4267T	probably benign	Het
Usp50	T	A	2: 126,551,386 (GRCm39)	E31V	probably benign	Het

Other mutations in Nfat5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Nfat5	APN	8	108,094,146 (GRCm39)	missense	probably damaging	1.00
IGL01145:Nfat5	APN	8	108,093,847 (GRCm39)	missense	probably damaging	0.99
IGL01700:Nfat5	APN	8	108,065,762 (GRCm39)	missense	probably damaging	0.99
IGL01721:Nfat5	APN	8	108,071,611 (GRCm39)	critical splice donor site	probably null
IGL01796:Nfat5	APN	8	108,094,273 (GRCm39)	missense	probably damaging	1.00
IGL02063:Nfat5	APN	8	108,088,450 (GRCm39)	missense	probably benign	0.03
IGL02150:Nfat5	APN	8	108,094,584 (GRCm39)	nonsense	probably null
IGL02174:Nfat5	APN	8	108,065,683 (GRCm39)	missense	probably damaging	1.00
IGL02224:Nfat5	APN	8	108,071,447 (GRCm39)	missense	probably benign	0.00
IGL02226:Nfat5	APN	8	108,078,154 (GRCm39)	nonsense	probably null
IGL02324:Nfat5	APN	8	108,092,808 (GRCm39)	splice site	probably benign
IGL02724:Nfat5	APN	8	108,085,367 (GRCm39)	missense	probably damaging	0.97
fettfeld	UTSW	8	108,074,359 (GRCm39)	missense	probably damaging	1.00
Grunefeld	UTSW	8	108,082,140 (GRCm39)	splice site	probably null
Kleinfeld	UTSW	8	108,078,070 (GRCm39)	missense	probably damaging	1.00
Lisa	UTSW	8	108,074,321 (GRCm39)	missense	probably damaging	1.00
viola	UTSW	8	108,085,300 (GRCm39)	missense	probably damaging	1.00
H8562:Nfat5	UTSW	8	108,066,014 (GRCm39)	splice site	probably benign
R0003:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0117:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0118:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0119:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0135:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0138:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0141:Nfat5	UTSW	8	108,065,707 (GRCm39)	missense	probably damaging	1.00
R0302:Nfat5	UTSW	8	108,085,333 (GRCm39)	missense	probably damaging	1.00
R0420:Nfat5	UTSW	8	108,094,093 (GRCm39)	missense	probably damaging	1.00
R0613:Nfat5	UTSW	8	108,092,927 (GRCm39)	missense	possibly damaging	0.83
R0691:Nfat5	UTSW	8	108,082,237 (GRCm39)	missense	probably damaging	1.00
R0743:Nfat5	UTSW	8	108,094,698 (GRCm39)	missense	probably damaging	1.00
R1329:Nfat5	UTSW	8	108,095,659 (GRCm39)	missense	probably benign	0.42
R1550:Nfat5	UTSW	8	108,097,205 (GRCm39)	missense	probably damaging	0.99
R1590:Nfat5	UTSW	8	108,020,522 (GRCm39)	missense	probably damaging	1.00
R1778:Nfat5	UTSW	8	108,088,421 (GRCm39)	missense	probably damaging	1.00
R1827:Nfat5	UTSW	8	108,093,966 (GRCm39)	missense	probably benign	0.00
R1918:Nfat5	UTSW	8	108,092,868 (GRCm39)	missense	probably damaging	0.97
R2679:Nfat5	UTSW	8	108,071,546 (GRCm39)	missense	probably damaging	1.00
R2850:Nfat5	UTSW	8	108,020,492 (GRCm39)	missense	probably damaging	1.00
R3703:Nfat5	UTSW	8	108,078,053 (GRCm39)	splice site	probably benign
R3966:Nfat5	UTSW	8	108,093,921 (GRCm39)	missense	possibly damaging	0.47
R4301:Nfat5	UTSW	8	108,082,327 (GRCm39)	intron	probably benign
R4596:Nfat5	UTSW	8	108,078,132 (GRCm39)	missense	possibly damaging	0.93
R4602:Nfat5	UTSW	8	108,093,855 (GRCm39)	nonsense	probably null
R4627:Nfat5	UTSW	8	108,095,908 (GRCm39)	missense	probably damaging	1.00
R4917:Nfat5	UTSW	8	108,051,284 (GRCm39)	missense	probably damaging	1.00
R4918:Nfat5	UTSW	8	108,051,284 (GRCm39)	missense	probably damaging	1.00
R5089:Nfat5	UTSW	8	108,078,070 (GRCm39)	missense	probably damaging	1.00
R5495:Nfat5	UTSW	8	108,095,079 (GRCm39)	missense	probably benign	0.03
R5566:Nfat5	UTSW	8	108,095,767 (GRCm39)	missense	possibly damaging	0.47
R5851:Nfat5	UTSW	8	108,074,359 (GRCm39)	missense	probably damaging	1.00
R6012:Nfat5	UTSW	8	108,093,765 (GRCm39)	missense	probably benign	0.09
R6018:Nfat5	UTSW	8	108,082,283 (GRCm39)	critical splice donor site	probably null
R6364:Nfat5	UTSW	8	108,094,909 (GRCm39)	missense	probably benign	0.00
R6404:Nfat5	UTSW	8	108,097,220 (GRCm39)	missense	probably benign	0.01
R6466:Nfat5	UTSW	8	108,082,140 (GRCm39)	splice site	probably null
R7056:Nfat5	UTSW	8	108,094,738 (GRCm39)	missense	probably damaging	1.00
R7105:Nfat5	UTSW	8	108,095,823 (GRCm39)	missense	possibly damaging	0.88
R7128:Nfat5	UTSW	8	108,085,323 (GRCm39)	missense	probably benign	0.10
R7214:Nfat5	UTSW	8	108,020,515 (GRCm39)	missense	probably damaging	0.99
R7276:Nfat5	UTSW	8	108,093,731 (GRCm39)	missense	probably benign	0.25
R7560:Nfat5	UTSW	8	108,097,221 (GRCm39)	missense	probably benign	0.15
R7844:Nfat5	UTSW	8	108,085,300 (GRCm39)	missense	probably damaging	1.00
R7993:Nfat5	UTSW	8	108,082,134 (GRCm39)	splice site	probably null
R8407:Nfat5	UTSW	8	108,094,047 (GRCm39)	nonsense	probably null
R8428:Nfat5	UTSW	8	108,095,152 (GRCm39)	missense	probably damaging	0.96
R8798:Nfat5	UTSW	8	108,074,321 (GRCm39)	missense	probably damaging	1.00
R8919:Nfat5	UTSW	8	108,095,228 (GRCm39)	missense	probably damaging	0.99
R9067:Nfat5	UTSW	8	108,094,536 (GRCm39)	missense	probably benign	0.07
R9123:Nfat5	UTSW	8	108,078,141 (GRCm39)	missense	probably damaging	0.97
R9226:Nfat5	UTSW	8	108,095,401 (GRCm39)	missense	probably damaging	1.00
R9351:Nfat5	UTSW	8	108,065,910 (GRCm39)	missense	probably damaging	1.00
X0022:Nfat5	UTSW	8	108,074,388 (GRCm39)	nonsense	probably null
Z1177:Nfat5	UTSW	8	108,065,474 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07