Mutagenetix > Incidental Mutation

Incidental Mutation 'R7292:Nfatc4'

566508

Institutional Source

Beutler Lab

Gene Symbol

Nfatc4

Ensembl Gene

ENSMUSG00000023411

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4

Synonyms

3110041H08Rik

MMRRC Submission

045397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56062252-56071400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56062512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 7 (E7K)

Ref Sequence

ENSEMBL: ENSMUSP00000024179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357] [ENSMUST00000226979]

AlphaFold

Q8K120

Predicted Effect

probably damaging
Transcript: ENSMUST00000024179
AA Change: E7K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: E7K

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD_DNA_bind	419	578	3.5e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172271
AA Change: E7K

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

SMART Domains

Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: E7K

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD	419	578	3.4e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC
low complexity region	878	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226357

Predicted Effect

probably damaging
Transcript: ENSMUST00000226979
AA Change: E7K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000228308

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (66/66)

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 nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,215,861 (GRCm39)	C322*	probably null	Het
4930553M12Rik	G	A	4: 88,786,568 (GRCm39)	R17C	unknown	Het
Abcc8	G	A	7: 45,784,950 (GRCm39)	T726I	probably benign	Het
Adamts18	T	C	8: 114,436,277 (GRCm39)	T981A	probably benign	Het
Adgrb3	A	G	1: 25,570,957 (GRCm39)	C507R	probably damaging	Het
Bloc1s6	T	A	2: 122,584,615 (GRCm39)	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,033,093 (GRCm39)	R135W	probably damaging	Het
Cdca2	G	T	14: 67,915,326 (GRCm39)	Y644*	probably null	Het
Ceacam10	G	T	7: 24,477,775 (GRCm39)	G97C	probably damaging	Het
Cenpf	G	A	1: 189,382,891 (GRCm39)	L2668F	probably damaging	Het
Cog4	A	G	8: 111,608,460 (GRCm39)	D774G	probably damaging	Het
Col11a2	G	A	17: 34,270,482 (GRCm39)	G511E	unknown	Het
Col19a1	T	A	1: 24,569,089 (GRCm39)	I220F	unknown	Het
Cubn	G	T	2: 13,429,550 (GRCm39)	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,136,072 (GRCm39)	L24P	unknown	Het
Eif4a3l2	G	A	6: 116,528,438 (GRCm39)	R105Q	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,396,716 (GRCm39)	E256*	probably null	Het
Gm5930	A	G	14: 44,574,014 (GRCm39)	S108P	probably damaging	Het
Gnl3	A	G	14: 30,735,189 (GRCm39)	S468P	probably benign	Het
Gzmb	A	T	14: 56,499,576 (GRCm39)	S11T	probably benign	Het
Hmcn1	T	C	1: 150,608,880 (GRCm39)		probably null	Het
Ifi206	A	G	1: 173,301,428 (GRCm39)	L750P	unknown	Het
Ifi213	T	A	1: 173,422,691 (GRCm39)	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,036,752 (GRCm39)	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,319,324 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,060,447 (GRCm39)	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 123,018,854 (GRCm39)	F862S	probably damaging	Het
Kif19b	A	G	5: 140,457,425 (GRCm39)	D398G	probably benign	Het
Meis1	A	G	11: 18,961,351 (GRCm39)	I174T	probably damaging	Het
Micu3	A	G	8: 40,835,166 (GRCm39)	Q507R	probably benign	Het
Mpp4	C	T	1: 59,182,969 (GRCm39)	E313K	possibly damaging	Het
Or7g16	A	T	9: 18,727,486 (GRCm39)	Y35N	probably damaging	Het
Or9s18	T	A	13: 65,300,656 (GRCm39)	V206D	possibly damaging	Het
Osbpl5	G	A	7: 143,255,015 (GRCm39)	P470S	probably damaging	Het
Pak6	A	G	2: 118,524,072 (GRCm39)	D409G	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,361,986 (GRCm39)	M553K	probably benign	Het
Ppp2r3d	T	C	9: 101,089,871 (GRCm39)	N151D	probably damaging	Het
Prdm12	T	C	2: 31,533,862 (GRCm39)	W160R	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,991,353 (GRCm39)		probably null	Het
Prob1	G	A	18: 35,787,603 (GRCm39)	P217L	possibly damaging	Het
Ramp1	A	C	1: 91,124,499 (GRCm39)	H20P	probably benign	Het
Rbm47	T	A	5: 66,184,093 (GRCm39)	E170V	possibly damaging	Het
Relch	G	T	1: 105,649,141 (GRCm39)		probably null	Het
Rpn1	C	T	6: 88,067,066 (GRCm39)	P142L	probably damaging	Het
Rsu1	C	T	2: 13,174,827 (GRCm39)	R238H	probably damaging	Het
Sh3rf3	C	T	10: 58,907,795 (GRCm39)	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,650,438 (GRCm39)	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,500,222 (GRCm39)	S245R	probably damaging	Het
Spcs3	T	C	8: 54,979,554 (GRCm39)	N76D	probably benign	Het
Spmip5	A	T	19: 58,777,539 (GRCm39)	Y90*	probably null	Het
Svep1	T	C	4: 58,111,395 (GRCm39)	T1075A	possibly damaging	Het
Sympk	A	T	7: 18,769,955 (GRCm39)	I211F	probably benign	Het
Tk1	C	T	11: 117,716,603 (GRCm39)	M1I	probably null	Het
Tln2	A	G	9: 67,253,743 (GRCm39)	V776A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,499,618 (GRCm39)	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630 (GRCm39)	S508C	probably benign	Het
Trank1	A	C	9: 111,206,938 (GRCm39)	R1690S	probably benign	Het
Trio	T	A	15: 27,828,437 (GRCm39)	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,912,927 (GRCm39)	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,761,700 (GRCm39)	D552E	probably benign	Het
Zw10	T	C	9: 48,972,491 (GRCm39)	V186A	probably benign	Het

Other mutations in Nfatc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Nfatc4	APN	14	56,070,019 (GRCm39)	missense	probably damaging	1.00
IGL01295:Nfatc4	APN	14	56,069,962 (GRCm39)	missense	probably benign	0.03
IGL01791:Nfatc4	APN	14	56,069,695 (GRCm39)	missense	probably null	0.04
IGL02536:Nfatc4	APN	14	56,067,367 (GRCm39)	missense	probably damaging	1.00
R0448:Nfatc4	UTSW	14	56,069,111 (GRCm39)	missense	possibly damaging	0.90
R0571:Nfatc4	UTSW	14	56,067,485 (GRCm39)	missense	probably damaging	0.96
R0743:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0884:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0965:Nfatc4	UTSW	14	56,064,043 (GRCm39)	missense	probably damaging	1.00
R1141:Nfatc4	UTSW	14	56,070,088 (GRCm39)	missense	probably damaging	1.00
R2309:Nfatc4	UTSW	14	56,064,461 (GRCm39)	missense	probably damaging	1.00
R2680:Nfatc4	UTSW	14	56,070,291 (GRCm39)	unclassified	probably benign
R4200:Nfatc4	UTSW	14	56,069,489 (GRCm39)	missense	probably damaging	1.00
R4905:Nfatc4	UTSW	14	56,068,039 (GRCm39)	missense	probably benign	0.16
R5067:Nfatc4	UTSW	14	56,069,875 (GRCm39)	missense	probably damaging	0.98
R5202:Nfatc4	UTSW	14	56,064,116 (GRCm39)	missense	probably damaging	1.00
R5415:Nfatc4	UTSW	14	56,070,091 (GRCm39)	missense	probably benign
R5585:Nfatc4	UTSW	14	56,064,212 (GRCm39)	missense	probably damaging	0.98
R5599:Nfatc4	UTSW	14	56,069,733 (GRCm39)	missense	probably benign	0.02
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6172:Nfatc4	UTSW	14	56,066,990 (GRCm39)	missense	possibly damaging	0.83
R7473:Nfatc4	UTSW	14	56,069,421 (GRCm39)	missense	probably benign	0.19
R7738:Nfatc4	UTSW	14	56,069,414 (GRCm39)	missense	possibly damaging	0.83
R8309:Nfatc4	UTSW	14	56,063,848 (GRCm39)	missense	probably damaging	0.99
R8445:Nfatc4	UTSW	14	56,063,875 (GRCm39)	missense	possibly damaging	0.85
R8853:Nfatc4	UTSW	14	56,063,690 (GRCm39)	missense	probably damaging	0.98
R9177:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9268:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9553:Nfatc4	UTSW	14	56,070,259 (GRCm39)	missense	probably damaging	1.00
R9667:Nfatc4	UTSW	14	56,066,964 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- CCGCTTTGAAGAAGTTTGGG -3'
(R):5'- TTCCACAGCCTTGGTAGTCC -3'

Sequencing Primer
(F):5'- AGTTTCTATAATAACGAGGGGGCGTC -3'
(R):5'- ACAGCCTTGGTAGTCCCTCAG -3'

Posted On

2019-06-26