Mutagenetix > Incidental Mutations

Incidental Mutation 'R4791:Stat5a'

368607

Institutional Source

Beutler Lab

Gene Symbol

Stat5a

Ensembl Gene

ENSMUSG00000004043

Gene Name

signal transducer and activator of transcription 5A

Synonyms

STAT5

MMRRC Submission

041976-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100859351-100885169 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100865463 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 170 (E170K)

Ref Sequence

ENSEMBL: ENSMUSP00000102980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000107356] [ENSMUST00000107357] [ENSMUST00000133036] [ENSMUST00000138083]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004145
AA Change: E170K

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

SMART Domains

Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: E170K

Domain	Start	End	E-Value	Type
STAT_int	2	126	4.42e-62	SMART
Pfam:STAT_alpha	138	330	6.9e-58	PFAM
Pfam:STAT_bind	332	583	2.4e-101	PFAM
SH2	587	688	7.64e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107356
AA Change: E170K

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

SMART Domains

Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: E170K

Domain	Start	End	E-Value	Type
STAT_int	2	126	4.42e-62	SMART
Pfam:STAT_alpha	138	330	6.9e-58	PFAM
Pfam:STAT_bind	332	583	2.4e-101	PFAM
SH2	587	688	7.64e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107357
AA Change: E170K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: E170K

Domain	Start	End	E-Value	Type
STAT_int	2	126	4.42e-62	SMART
Pfam:STAT_alpha	141	330	4.5e-57	PFAM
Pfam:STAT_bind	332	582	1e-104	PFAM
SH2	587	688	1.55e-6	SMART
low complexity region	713	729	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133036

SMART Domains

Protein: ENSMUSP00000117204
Gene: ENSMUSG00000004043

Domain	Start	End	E-Value	Type
Pfam:STAT_int	2	51	5.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138083

SMART Domains

Protein: ENSMUSP00000120039
Gene: ENSMUSG00000004043

Domain	Start	End	E-Value	Type
STAT_int	2	125	2.23e-58	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154087

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene are reduced in size and display abnormalities in both mammary gland structure and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	T	6: 50,595,837	P32Q	probably damaging	Het
Abcc6	C	T	7: 45,982,160	V1231M	probably benign	Het
Agl	A	G	3: 116,786,528		probably null	Het
Ak7	T	C	12: 105,710,145	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,619,985	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,283,183	L1368F	probably damaging	Het
Atp5j2	T	C	5: 145,184,555	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,646,727	F317V	probably benign	Het
Bank1	A	T	3: 136,254,929	S56T	probably benign	Het
BC080695	A	G	4: 143,570,989		probably benign	Het
Cachd1	T	A	4: 100,918,085	C166S	probably damaging	Het
Cand1	A	G	10: 119,210,702	I961T	probably benign	Het
Ccdc73	G	A	2: 104,981,105		probably null	Het
Cct6b	A	T	11: 82,742,004		probably null	Het
Chd2	A	C	7: 73,468,577	S1098A	probably benign	Het
Col6a4	A	T	9: 106,080,202	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,930,784	T1022A	unknown	Het
Cr2	A	T	1: 195,155,935	C698S	probably damaging	Het
Diexf	G	A	1: 193,128,267	H143Y	probably benign	Het
Dnaaf5	C	A	5: 139,184,650	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,095,074	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,721,117	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,301,198	T123S	probably damaging	Het
Edem1	T	G	6: 108,841,634	V201G	probably damaging	Het
Eef1d	C	T	15: 75,903,682	A43T	possibly damaging	Het
Elavl3	T	C	9: 22,024,678	K249E	probably damaging	Het
Epg5	G	T	18: 77,948,996	E303*	probably null	Het
Fam83h	T	C	15: 76,002,368	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,876,659	F211L	probably benign	Het
Fsip2	A	G	2: 82,982,108	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,450,683		noncoding transcript	Het
Gpr135	T	A	12: 72,069,868	D375V	probably benign	Het
Hgd	A	G	16: 37,631,825	*446W	probably null	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Htra2	A	G	6: 83,051,817	L379P	probably damaging	Het
Hypk	G	T	2: 121,457,655		probably null	Het
Ica1l	A	G	1: 60,010,201	F198L	probably damaging	Het
Igsf11	G	A	16: 39,024,864	S319N	probably damaging	Het
Il12rb1	T	C	8: 70,813,368	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,904,650	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,447,543	P530S	probably benign	Het
Kcnu1	T	C	8: 25,913,752	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,630,800	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,287,875	M12L	probably benign	Het
Klre1	T	C	6: 129,584,155	S160P	probably damaging	Het
Lama2	A	T	10: 27,467,271	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,453,322	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,654,471	V317M	probably damaging	Het
Lsr	T	C	7: 30,958,552	T328A	probably damaging	Het
Mark4	C	T	7: 19,451,657	E51K	probably benign	Het
Mindy2	T	C	9: 70,634,001		probably null	Het
Mkks	G	A	2: 136,876,162	T400I	probably benign	Het
Mon2	T	A	10: 123,006,057	M1544L	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myo5c	T	G	9: 75,290,916	L1341R	probably damaging	Het
Nin	T	C	12: 70,043,807	R945G	possibly damaging	Het
Nox4	T	C	7: 87,304,847	V120A	probably benign	Het
Olfr1196	C	T	2: 88,700,898	V144I	probably benign	Het
Olfr1496	T	A	19: 13,781,342	C243*	probably null	Het
Olfr169	G	T	16: 19,566,663	H73Q	possibly damaging	Het
Olfr30	A	T	11: 58,455,544	V135E	possibly damaging	Het
Olfr847	T	C	9: 19,375,809	E24G	probably benign	Het
Plekha2	T	A	8: 25,042,762	R398W	probably damaging	Het
Pradc1	A	G	6: 85,447,191	W58R	probably damaging	Het
Prrc2b	A	G	2: 32,217,339		probably null	Het
Psg19	T	A	7: 18,794,146	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,487,746	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,500,173	S211G	probably benign	Het
Rcc1l	G	A	5: 134,163,776	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,719,944		probably null	Het
Rnf222	A	T	11: 68,893,019	E137D	probably damaging	Het
Selenof	T	G	3: 144,596,823	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,603,813	D108E	probably damaging	Het
Shank3	T	A	15: 89,500,354	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,050,873	R45G	probably damaging	Het
Sirt4	T	C	5: 115,480,314	T234A	possibly damaging	Het
Slc25a30	C	A	14: 75,763,366	W266L	probably benign	Het
Spata20	A	T	11: 94,484,586	N127K	probably damaging	Het
St14	C	T	9: 31,095,622	G636D	probably benign	Het
Sugp2	C	T	8: 70,242,790	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,586,730	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,192,558	V608A	possibly damaging	Het
Syne2	T	C	12: 75,909,244	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,868,132	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,670,067	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,139,650	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,511,994		probably benign	Het
Tmx2	G	A	2: 84,677,996	P15L	probably damaging	Het
Top1mt	C	T	15: 75,668,625		probably null	Het
Trpm6	T	A	19: 18,867,981	S1682T	probably benign	Het
Trrap	C	T	5: 144,803,277	R1171W	probably damaging	Het
Ugt3a2	A	G	15: 9,361,579	D147G	probably damaging	Het
Vnn3	A	G	10: 23,864,621	H274R	probably benign	Het
Vwf	C	A	6: 125,643,363	T1668K		Het
Zfp568	T	C	7: 30,015,183	S162P	probably damaging	Het
Zfp658	T	A	7: 43,574,466	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,171,231	H91Q	probably damaging	Het

Other mutations in Stat5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Stat5a	APN	11	100881072	missense	probably damaging	1.00
IGL02021:Stat5a	APN	11	100883889	missense	probably damaging	1.00
IGL02032:Stat5a	APN	11	100861828	missense	probably damaging	0.99
IGL03108:Stat5a	APN	11	100863139	nonsense	probably null
IGL03160:Stat5a	APN	11	100861845	missense	possibly damaging	0.71
hohum	UTSW	11	100874129	missense	probably damaging	1.00
R8176_stat5a_357	UTSW	11	100876863	missense	probably damaging	1.00
yawn	UTSW	11	100879693	missense	possibly damaging	0.50
R0098:Stat5a	UTSW	11	100875626	missense	probably damaging	0.98
R0362:Stat5a	UTSW	11	100882083	missense	probably benign	0.01
R0452:Stat5a	UTSW	11	100863135	missense	probably benign	0.20
R0520:Stat5a	UTSW	11	100861426	missense	probably damaging	0.98
R0815:Stat5a	UTSW	11	100875082	splice site	probably null
R1081:Stat5a	UTSW	11	100881060	missense	probably damaging	1.00
R1752:Stat5a	UTSW	11	100884058	makesense	probably null
R1774:Stat5a	UTSW	11	100879286	missense	probably damaging	1.00
R1868:Stat5a	UTSW	11	100874129	missense	probably damaging	1.00
R2152:Stat5a	UTSW	11	100874090	missense	probably benign	0.38
R2900:Stat5a	UTSW	11	100874131	missense	probably benign	0.18
R4023:Stat5a	UTSW	11	100874926	nonsense	probably null
R5396:Stat5a	UTSW	11	100880583	missense	probably damaging	1.00
R5641:Stat5a	UTSW	11	100876808	missense	probably benign	0.01
R5723:Stat5a	UTSW	11	100882074	missense	probably benign	0.00
R5896:Stat5a	UTSW	11	100877057	missense	possibly damaging	0.94
R6026:Stat5a	UTSW	11	100880316	missense	probably damaging	1.00
R7052:Stat5a	UTSW	11	100879285	missense	probably damaging	1.00
R7075:Stat5a	UTSW	11	100879693	missense	possibly damaging	0.50
R7568:Stat5a	UTSW	11	100875024	missense	possibly damaging	0.74
R7771:Stat5a	UTSW	11	100863219	missense	probably benign	0.34
R7801:Stat5a	UTSW	11	100880317	missense	probably damaging	1.00
R7814:Stat5a	UTSW	11	100875027	missense	probably damaging	1.00
R7856:Stat5a	UTSW	11	100883902	missense	unknown
R8176:Stat5a	UTSW	11	100876863	missense	probably damaging	1.00
R8234:Stat5a	UTSW	11	100879303	missense	possibly damaging	0.59
R8680:Stat5a	UTSW	11	100883888	missense	unknown
R8923:Stat5a	UTSW	11	100880482	missense

Predicted Primers

PCR Primer
(F):5'- GCTCCAACTCTGTCACTGAC -3'
(R):5'- TGGAAGCCCCGATGATTCTTAC -3'

Sequencing Primer
(F):5'- CCGAGACAGGTTTTCTCTGCATAG -3'
(R):5'- ACTAGGTTTTGGACAGAGTGCCC -3'

Posted On

2016-02-04