Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Nfat5'

250773

Institutional Source

Beutler Lab

Gene Symbol

Nfat5

Ensembl Gene

ENSMUSG00000003847

Gene Name

nuclear factor of activated T cells 5

Synonyms

OREBP, nfatz, TonEBP, B130038B15Rik

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107293470-107379517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107344914 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 314 (Y314C)

Ref Sequence

ENSEMBL: ENSMUSP00000127784 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075922
AA Change: Y296C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: Y296C

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: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
AA Change: Y220C

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: Y296C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: Y296C

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

unknown
Transcript: ENSMUST00000126333
AA Change: Y43C

SMART Domains

Protein: ENSMUSP00000118130
Gene: ENSMUSG00000003847
AA Change: Y43C

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	30	132	6.8e-18	PFAM

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

noncoding transcript
Transcript: ENSMUST00000148006

Predicted Effect

probably damaging
Transcript: ENSMUST00000151114
AA Change: Y314C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: Y314C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169453
AA Change: Y314C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: Y314C

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

Meta Mutation Damage Score

0.9386

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Nfat5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Nfat5	APN	8	107367514	missense	probably damaging	1.00
IGL01145:Nfat5	APN	8	107367215	missense	probably damaging	0.99
IGL01700:Nfat5	APN	8	107339130	missense	probably damaging	0.99
IGL01721:Nfat5	APN	8	107344979	critical splice donor site	probably null
IGL01796:Nfat5	APN	8	107367641	missense	probably damaging	1.00
IGL01976:Nfat5	APN	8	107367559	missense	probably damaging	1.00
IGL02063:Nfat5	APN	8	107361818	missense	probably benign	0.03
IGL02150:Nfat5	APN	8	107367952	nonsense	probably null
IGL02174:Nfat5	APN	8	107339051	missense	probably damaging	1.00
IGL02224:Nfat5	APN	8	107344815	missense	probably benign	0.00
IGL02226:Nfat5	APN	8	107351522	nonsense	probably null
IGL02324:Nfat5	APN	8	107366176	splice site	probably benign
IGL02724:Nfat5	APN	8	107358735	missense	probably damaging	0.97
fettfeld	UTSW	8	107347727	missense	probably damaging	1.00
Grunefeld	UTSW	8	107355508	splice site	probably null
Kleinfeld	UTSW	8	107351438	missense	probably damaging	1.00
viola	UTSW	8	107358668	missense	probably damaging	1.00
H8562:Nfat5	UTSW	8	107339382	splice site	probably benign
R0003:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0117:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0118:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0119:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0135:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0138:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0141:Nfat5	UTSW	8	107339075	missense	probably damaging	1.00
R0302:Nfat5	UTSW	8	107358701	missense	probably damaging	1.00
R0420:Nfat5	UTSW	8	107367461	missense	probably damaging	1.00
R0613:Nfat5	UTSW	8	107366295	missense	possibly damaging	0.83
R0691:Nfat5	UTSW	8	107355605	missense	probably damaging	1.00
R0743:Nfat5	UTSW	8	107368066	missense	probably damaging	1.00
R1329:Nfat5	UTSW	8	107369027	missense	probably benign	0.42
R1550:Nfat5	UTSW	8	107370573	missense	probably damaging	0.99
R1590:Nfat5	UTSW	8	107293890	missense	probably damaging	1.00
R1778:Nfat5	UTSW	8	107361789	missense	probably damaging	1.00
R1827:Nfat5	UTSW	8	107367334	missense	probably benign	0.00
R1918:Nfat5	UTSW	8	107366236	missense	probably damaging	0.97
R2850:Nfat5	UTSW	8	107293860	missense	probably damaging	1.00
R3703:Nfat5	UTSW	8	107351421	splice site	probably benign
R3966:Nfat5	UTSW	8	107367289	missense	possibly damaging	0.47
R4301:Nfat5	UTSW	8	107355695	intron	probably benign
R4596:Nfat5	UTSW	8	107351500	missense	possibly damaging	0.93
R4602:Nfat5	UTSW	8	107367223	nonsense	probably null
R4627:Nfat5	UTSW	8	107369276	missense	probably damaging	1.00
R4917:Nfat5	UTSW	8	107324652	missense	probably damaging	1.00
R4918:Nfat5	UTSW	8	107324652	missense	probably damaging	1.00
R5089:Nfat5	UTSW	8	107351438	missense	probably damaging	1.00
R5495:Nfat5	UTSW	8	107368447	missense	probably benign	0.03
R5566:Nfat5	UTSW	8	107369135	missense	possibly damaging	0.47
R5851:Nfat5	UTSW	8	107347727	missense	probably damaging	1.00
R6012:Nfat5	UTSW	8	107367133	missense	probably benign	0.09
R6018:Nfat5	UTSW	8	107355651	critical splice donor site	probably null
R6364:Nfat5	UTSW	8	107368277	missense	probably benign	0.00
R6404:Nfat5	UTSW	8	107370588	missense	probably benign	0.01
R6466:Nfat5	UTSW	8	107355508	splice site	probably null
R7056:Nfat5	UTSW	8	107368106	missense	probably damaging	1.00
R7105:Nfat5	UTSW	8	107369191	missense	possibly damaging	0.88
R7128:Nfat5	UTSW	8	107358691	missense	probably benign	0.10
R7214:Nfat5	UTSW	8	107293883	missense	probably damaging	0.99
R7276:Nfat5	UTSW	8	107367099	missense	probably benign	0.25
R7560:Nfat5	UTSW	8	107370589	missense	probably benign	0.15
R7844:Nfat5	UTSW	8	107358668	missense	probably damaging	1.00
R7993:Nfat5	UTSW	8	107355502	splice site	probably null
R8407:Nfat5	UTSW	8	107367415	nonsense	probably null
R8428:Nfat5	UTSW	8	107368520	missense	probably damaging	0.96
X0022:Nfat5	UTSW	8	107347756	nonsense	probably null
Z1177:Nfat5	UTSW	8	107338842	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTTCATGGCGTGTAGTTAC -3'
(R):5'- ACTTCTACCCTTCTATTTCAGGAAG -3'

Sequencing Primer
(F):5'- GGCTGTGTTTTATCCATAAGTTAAGC -3'
(R):5'- GGATAACCATGTAGAGCCAGTTCTC -3'

Posted On

2014-12-04