Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Stat5a'

36270

Institutional Source

Beutler Lab

Gene Symbol

Stat5a

Ensembl Gene

ENSMUSG00000004043

Gene Name

signal transducer and activator of transcription 5A

Synonyms

STAT5

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100750177-100775995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100772909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 712 (D712E)

Ref Sequence

ENSEMBL: ENSMUSP00000102979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000103114] [ENSMUST00000107356] [ENSMUST00000107357] [ENSMUST00000127638]

AlphaFold

P42230

Predicted Effect

probably benign
Transcript: ENSMUST00000004145
AA Change: D712E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: D712E

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 benign
Transcript: ENSMUST00000103114

SMART Domains

Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.03e-60	SMART
Pfam:STAT_alpha	138	319	7.2e-62	PFAM
Pfam:STAT_bind	321	574	5.7e-130	PFAM
SH2	582	663	2.84e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107356
AA Change: D712E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: D712E

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 benign
Transcript: ENSMUST00000107357
AA Change: M695K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: M695K

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: ENSMUST00000127638

SMART Domains

Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.03e-60	SMART
Pfam:STAT_alpha	141	319	6.8e-59	PFAM
Pfam:STAT_bind	321	573	2.5e-80	PFAM
SH2	582	663	2.84e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154087

Meta Mutation Damage Score

0.0800

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,563,261 (GRCm39)	Q401R	probably benign	Het
Acp3	A	G	9: 104,191,626 (GRCm39)	F220S	probably damaging	Het
Adam7	A	G	14: 68,747,105 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,526,584 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,625,051 (GRCm39)		probably benign	Het
Atg10	T	C	13: 91,189,109 (GRCm39)		probably null	Het
Atm	T	C	9: 53,370,138 (GRCm39)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,060,443 (GRCm39)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm39)	K1111E	probably damaging	Het
Ciao2b	T	C	8: 105,368,222 (GRCm39)	D34G	probably null	Het
Col11a2	T	A	17: 34,281,420 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,236 (GRCm39)	W116R	probably damaging	Het
Ctsk	A	T	3: 95,408,255 (GRCm39)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,787,813 (GRCm39)		probably null	Het
Dcdc2b	T	C	4: 129,504,031 (GRCm39)		probably null	Het
Ddx28	C	T	8: 106,737,926 (GRCm39)	R44Q	probably damaging	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Dnah17	A	T	11: 117,989,365 (GRCm39)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,185,592 (GRCm39)	S110G	probably benign	Het
Drc7	T	C	8: 95,799,483 (GRCm39)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm39)		probably null	Het
Ecm1	A	G	3: 95,644,369 (GRCm39)	I152T	possibly damaging	Het
Edc4	C	G	8: 106,613,407 (GRCm39)	P307R	probably damaging	Het
Eeig2	C	T	3: 108,887,497 (GRCm39)	E256K	probably benign	Het
Egr1	A	G	18: 34,996,366 (GRCm39)	T383A	possibly damaging	Het
Eml2	A	G	7: 18,924,731 (GRCm39)		probably null	Het
Eno4	A	G	19: 58,932,056 (GRCm39)		probably benign	Het
Erbb4	A	T	1: 68,369,429 (GRCm39)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,186,488 (GRCm39)	T310K	probably benign	Het
Fam83e	G	T	7: 45,376,393 (GRCm39)	V369L	probably benign	Het
Fancc	A	T	13: 63,545,970 (GRCm39)	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,151,697 (GRCm39)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,223,133 (GRCm39)	C826*	probably null	Het
Foxi3	A	G	6: 70,933,612 (GRCm39)	D33G	probably benign	Het
Gcn1	T	C	5: 115,714,167 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,410,310 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,384,853 (GRCm39)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,670,949 (GRCm39)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,092,892 (GRCm39)	S90C	probably damaging	Het
Has2	A	C	15: 56,545,057 (GRCm39)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,935,644 (GRCm39)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,348,038 (GRCm39)	V48A	probably benign	Het
Lig1	T	A	7: 13,030,730 (GRCm39)		probably benign	Het
Magi2	A	G	5: 19,432,573 (GRCm39)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,128,787 (GRCm39)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm39)		probably null	Het
Mfsd4a	A	T	1: 131,987,013 (GRCm39)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,086,526 (GRCm39)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,785,600 (GRCm39)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,800,414 (GRCm39)	W990R	probably damaging	Het
Myt1	A	T	2: 181,405,186 (GRCm39)		probably benign	Het
Nf1	C	T	11: 79,427,704 (GRCm39)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,439,623 (GRCm39)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,173,649 (GRCm39)		probably null	Het
Nxf1	T	C	19: 8,741,515 (GRCm39)		probably null	Het
Or7a36	A	T	10: 78,820,220 (GRCm39)	M199L	probably benign	Het
P4hb	T	C	11: 120,454,162 (GRCm39)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,574,457 (GRCm39)	N243S	probably benign	Het
Parp8	G	A	13: 117,061,504 (GRCm39)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,568,380 (GRCm39)	D543A	probably benign	Het
Pld5	A	T	1: 175,803,146 (GRCm39)	L311*	probably null	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plpp5	A	T	8: 26,214,219 (GRCm39)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,528,285 (GRCm39)	L542S	probably damaging	Het
Prkar2b	A	T	12: 32,037,973 (GRCm39)		probably null	Het
Psmg1	A	T	16: 95,789,171 (GRCm39)	S129T	possibly damaging	Het
Radil	T	C	5: 142,529,582 (GRCm39)	D38G	probably benign	Het
Ric1	T	C	19: 29,578,411 (GRCm39)		probably null	Het
Rp1l1	T	A	14: 64,268,515 (GRCm39)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,645,100 (GRCm39)	M1K	probably null	Het
Serpina6	G	T	12: 103,618,208 (GRCm39)	L202I	probably damaging	Het
Simc1	T	C	13: 54,676,280 (GRCm39)	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,270,767 (GRCm39)		probably benign	Het
Slc34a1	T	A	13: 55,550,711 (GRCm39)		probably null	Het
Slfn10-ps	T	A	11: 82,926,600 (GRCm39)		noncoding transcript	Het
Sohlh2	A	G	3: 55,115,163 (GRCm39)	N383D	probably damaging	Het
Spag6	T	A	2: 18,715,302 (GRCm39)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,388,475 (GRCm39)		probably benign	Het
St3gal4	T	A	9: 34,964,469 (GRCm39)	K199*	probably null	Het
Stmn2	A	T	3: 8,610,750 (GRCm39)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,233,777 (GRCm39)	P20S	possibly damaging	Het
Taf2	A	T	15: 54,909,325 (GRCm39)	V640E	probably damaging	Het
Tbce	T	C	13: 14,172,747 (GRCm39)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,935,374 (GRCm39)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,421,242 (GRCm39)	Y598*	probably null	Het
Ticrr	A	G	7: 79,327,088 (GRCm39)	S599G	probably damaging	Het
Tnc	A	C	4: 63,935,679 (GRCm39)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,216,402 (GRCm39)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,095,993 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,576,264 (GRCm39)	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,450,432 (GRCm39)	D181G	probably damaging	Het
Tut1	T	C	19: 8,932,891 (GRCm39)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,678,412 (GRCm39)	C769F	probably benign	Het
Vdac1	T	C	11: 52,265,800 (GRCm39)		probably benign	Het
Vmn2r124	T	C	17: 18,284,486 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,426,977 (GRCm39)		probably benign	Het
Wdr35	T	C	12: 9,045,625 (GRCm39)		probably benign	Het
Zdhhc7	T	A	8: 120,813,386 (GRCm39)	E141V	probably null	Het
Zfp12	C	A	5: 143,230,978 (GRCm39)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,626,819 (GRCm39)		probably benign	Het
Zfyve9	T	A	4: 108,538,166 (GRCm39)	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,772,013 (GRCm39)	S1572T	possibly damaging	Het

Other mutations in Stat5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Stat5a	APN	11	100,771,898 (GRCm39)	missense	probably damaging	1.00
IGL02021:Stat5a	APN	11	100,774,715 (GRCm39)	missense	probably damaging	1.00
IGL02032:Stat5a	APN	11	100,752,654 (GRCm39)	missense	probably damaging	0.99
IGL03108:Stat5a	APN	11	100,753,965 (GRCm39)	nonsense	probably null
IGL03160:Stat5a	APN	11	100,752,671 (GRCm39)	missense	possibly damaging	0.71
Blinken	UTSW	11	100,771,308 (GRCm39)	missense
hohum	UTSW	11	100,764,955 (GRCm39)	missense	probably damaging	1.00
Nod	UTSW	11	100,767,689 (GRCm39)	missense	probably damaging	1.00
Nodoze	UTSW	11	100,771,353 (GRCm39)	missense	probably benign	0.05
Yawn	UTSW	11	100,770,519 (GRCm39)	missense	possibly damaging	0.50
R0098:Stat5a	UTSW	11	100,766,452 (GRCm39)	missense	probably damaging	0.98
R0452:Stat5a	UTSW	11	100,753,961 (GRCm39)	missense	probably benign	0.20
R0520:Stat5a	UTSW	11	100,752,252 (GRCm39)	missense	probably damaging	0.98
R0815:Stat5a	UTSW	11	100,765,908 (GRCm39)	splice site	probably null
R1081:Stat5a	UTSW	11	100,771,886 (GRCm39)	missense	probably damaging	1.00
R1752:Stat5a	UTSW	11	100,774,884 (GRCm39)	makesense	probably null
R1774:Stat5a	UTSW	11	100,770,112 (GRCm39)	missense	probably damaging	1.00
R1868:Stat5a	UTSW	11	100,764,955 (GRCm39)	missense	probably damaging	1.00
R2152:Stat5a	UTSW	11	100,764,916 (GRCm39)	missense	probably benign	0.38
R2900:Stat5a	UTSW	11	100,764,957 (GRCm39)	missense	probably benign	0.18
R4023:Stat5a	UTSW	11	100,765,752 (GRCm39)	nonsense	probably null
R4791:Stat5a	UTSW	11	100,756,289 (GRCm39)	missense	probably damaging	1.00
R5396:Stat5a	UTSW	11	100,771,409 (GRCm39)	missense	probably damaging	1.00
R5641:Stat5a	UTSW	11	100,767,634 (GRCm39)	missense	probably benign	0.01
R5723:Stat5a	UTSW	11	100,772,900 (GRCm39)	missense	probably benign	0.00
R5896:Stat5a	UTSW	11	100,767,883 (GRCm39)	missense	possibly damaging	0.94
R6026:Stat5a	UTSW	11	100,771,142 (GRCm39)	missense	probably damaging	1.00
R7052:Stat5a	UTSW	11	100,770,111 (GRCm39)	missense	probably damaging	1.00
R7075:Stat5a	UTSW	11	100,770,519 (GRCm39)	missense	possibly damaging	0.50
R7568:Stat5a	UTSW	11	100,765,850 (GRCm39)	missense	possibly damaging	0.74
R7771:Stat5a	UTSW	11	100,754,045 (GRCm39)	missense	probably benign	0.34
R7801:Stat5a	UTSW	11	100,771,143 (GRCm39)	missense	probably damaging	1.00
R7814:Stat5a	UTSW	11	100,765,853 (GRCm39)	missense	probably damaging	1.00
R7856:Stat5a	UTSW	11	100,774,728 (GRCm39)	missense	unknown
R8176:Stat5a	UTSW	11	100,767,689 (GRCm39)	missense	probably damaging	1.00
R8234:Stat5a	UTSW	11	100,770,129 (GRCm39)	missense	possibly damaging	0.59
R8680:Stat5a	UTSW	11	100,774,714 (GRCm39)	missense	unknown
R8923:Stat5a	UTSW	11	100,771,308 (GRCm39)	missense
R8970:Stat5a	UTSW	11	100,771,353 (GRCm39)	missense	probably benign	0.05
R8988:Stat5a	UTSW	11	100,774,764 (GRCm39)	missense	unknown
R9401:Stat5a	UTSW	11	100,756,254 (GRCm39)	missense	possibly damaging	0.73
R9433:Stat5a	UTSW	11	100,765,870 (GRCm39)	missense	probably benign	0.03
R9526:Stat5a	UTSW	11	100,771,161 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CGGATACGTGAAGCCACAGATCAAG -3'
(R):5'- TCAAGAATCTAGCCTGAGGCCCAG -3'

Sequencing Primer
(F):5'- TCCCTGAGTAAGTGTCCAGAG -3'
(R):5'- GGCCCAGCCCCAGTTTC -3'

Posted On

2013-05-09