Mutagenetix > Incidental Mutation

Incidental Mutation 'R8680:Stat5a'

661703

Institutional Source

Beutler Lab

Gene Symbol

Stat5a

Ensembl Gene

ENSMUSG00000004043

Gene Name

signal transducer and activator of transcription 5A

Synonyms

STAT5

MMRRC Submission

068535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100750177-100775995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100774714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 741 (M741T)

Ref Sequence

ENSEMBL: ENSMUSP00000102980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000107356] [ENSMUST00000107357] [ENSMUST00000127638] [ENSMUST00000138438]

AlphaFold

P42230

Predicted Effect

silent
Transcript: ENSMUST00000004145

SMART Domains

Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043

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: ENSMUST00000092671

SMART Domains

Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.03e-60	SMART
Pfam:STAT_alpha	138	319	2.2e-62	PFAM
Pfam:STAT_bind	321	574	1.8e-130	PFAM
SH2	582	663	2.84e-1	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

silent
Transcript: ENSMUST00000107356

SMART Domains

Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043

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

unknown
Transcript: ENSMUST00000107357
AA Change: M741T

SMART Domains

Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: M741T

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

probably benign
Transcript: ENSMUST00000138438

SMART Domains

Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040

Domain	Start	End	E-Value	Type
STAT_int	2	123	5.47e-35	SMART
coiled coil region	171	195	N/A	INTRINSIC
coiled coil region	243	265	N/A	INTRINSIC
Pfam:STAT_bind	295	548	9.2e-131	PFAM
SH2	556	637	2.84e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,551 (GRCm39)	Y195C	probably damaging	Het
Abcb1a	T	A	5: 8,735,371 (GRCm39)	F159L	probably damaging	Het
Adam6b	A	G	12: 113,454,371 (GRCm39)	N396S	probably benign	Het
Adamts15	T	C	9: 30,823,055 (GRCm39)	M338V	possibly damaging	Het
Adamts7	T	A	9: 90,077,321 (GRCm39)	H1329Q	probably damaging	Het
Aim2	C	T	1: 173,289,786 (GRCm39)	P243L	probably damaging	Het
Ankdd1a	T	C	9: 65,412,418 (GRCm39)	D311G	probably damaging	Het
Apon	A	T	10: 128,090,428 (GRCm39)	E35D	probably benign	Het
Atp1a4	T	C	1: 172,078,566 (GRCm39)	D224G	probably damaging	Het
Atp6v0a1	T	A	11: 100,953,229 (GRCm39)	*839R	probably null	Het
Bco2	A	G	9: 50,461,878 (GRCm39)	L42P	probably damaging	Het
Bicral	T	A	17: 47,141,873 (GRCm39)		probably benign	Het
Ccna1	T	C	3: 54,955,878 (GRCm39)	Q306R	probably benign	Het
Cep152	G	T	2: 125,406,131 (GRCm39)	S1467*	probably null	Het
Cfap44	T	A	16: 44,225,085 (GRCm39)	V110E	probably damaging	Het
Clip2	G	A	5: 134,531,462 (GRCm39)	A781V	probably benign	Het
Cps1	A	T	1: 67,243,772 (GRCm39)	I1083F	probably damaging	Het
Cux1	A	G	5: 136,336,710 (GRCm39)	V934A	possibly damaging	Het
Depdc5	T	C	5: 33,101,382 (GRCm39)	F891L	possibly damaging	Het
Dnai7	T	A	6: 145,127,542 (GRCm39)	I456F	probably benign	Het
Dnajc13	A	G	9: 104,057,338 (GRCm39)	V1554A	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eif6	T	A	2: 155,664,772 (GRCm39)	D238V	probably benign	Het
Fat2	G	A	11: 55,144,692 (GRCm39)	L4061F	probably benign	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,174,039 (GRCm39)	E790G	probably damaging	Het
Ighv1-67	A	T	12: 115,567,861 (GRCm39)	V17E	probably damaging	Het
Klra9	T	A	6: 130,165,639 (GRCm39)	R125S	probably damaging	Het
Leo1	T	C	9: 75,353,277 (GRCm39)		probably null	Het
Map2	G	T	1: 66,460,872 (GRCm39)	R1556L	probably damaging	Het
Megf8	A	G	7: 25,059,166 (GRCm39)		probably null	Het
Meikin	T	C	11: 54,317,477 (GRCm39)	I426T	possibly damaging	Het
Muc16	A	T	9: 18,556,015 (GRCm39)	V3426E	unknown	Het
Or4a15	T	A	2: 89,193,065 (GRCm39)	Y236F	probably benign	Het
Or51af1	G	A	7: 103,142,029 (GRCm39)	L19F	probably damaging	Het
Or52n2c	A	G	7: 104,574,620 (GRCm39)	L117P	probably damaging	Het
Or7e168	T	G	9: 19,720,105 (GRCm39)	S164A	possibly damaging	Het
Or8k25	T	C	2: 86,243,935 (GRCm39)	I154V	probably benign	Het
Or9s13	T	C	1: 92,547,643 (GRCm39)	V5A	probably benign	Het
Otogl	A	G	10: 107,747,936 (GRCm39)		probably null	Het
Palm3	T	C	8: 84,756,504 (GRCm39)	L672P	probably damaging	Het
Perm1	A	G	4: 156,302,091 (GRCm39)	T212A	probably benign	Het
Poc1a	T	C	9: 106,226,960 (GRCm39)	M400T	probably benign	Het
Pou6f2	T	A	13: 18,414,196 (GRCm39)	Q193L	unknown	Het
Ppl	C	T	16: 4,905,300 (GRCm39)	R1665H	probably benign	Het
Ppp4r3b	T	C	11: 29,123,449 (GRCm39)		probably null	Het
Ptger1	T	C	8: 84,394,654 (GRCm39)	S44P	probably damaging	Het
Pzp	T	C	6: 128,473,009 (GRCm39)	T787A	probably benign	Het
Rab44	A	T	17: 29,358,642 (GRCm39)	R277*	probably null	Het
Rasgef1a	T	A	6: 118,064,088 (GRCm39)	I334K	probably damaging	Het
Rfx1	T	C	8: 84,818,084 (GRCm39)	V554A	possibly damaging	Het
Ripk1	T	A	13: 34,214,032 (GRCm39)	I518K	possibly damaging	Het
Rpl22	A	G	4: 152,416,763 (GRCm39)	Y90C	probably damaging	Het
Rps27a	C	A	11: 29,495,998 (GRCm39)	R118L	probably benign	Het
Scmh1	T	A	4: 120,319,331 (GRCm39)	S19T	probably benign	Het
Scn10a	C	T	9: 119,520,509 (GRCm39)		probably null	Het
Sema4c	A	T	1: 36,589,867 (GRCm39)	S496T	probably benign	Het
Serpina3i	T	C	12: 104,231,387 (GRCm39)	V8A	possibly damaging	Het
Sis	G	A	3: 72,867,628 (GRCm39)	T139M	probably damaging	Het
Skic3	A	T	13: 76,303,587 (GRCm39)	H1227L	probably benign	Het
Slc45a2	T	A	15: 11,000,972 (GRCm39)	S24T	probably benign	Het
Slc5a11	A	G	7: 122,866,975 (GRCm39)	I423M	probably benign	Het
Slc7a10	G	A	7: 34,885,997 (GRCm39)	G31S	probably benign	Het
Sowahc	A	G	10: 59,059,001 (GRCm39)	N379S	probably benign	Het
Tcf15	T	C	2: 151,986,020 (GRCm39)	S159P	probably benign	Het
Tdrd5	C	A	1: 156,098,788 (GRCm39)	R669L	possibly damaging	Het
Tln1	T	C	4: 43,553,041 (GRCm39)	E350G	possibly damaging	Het
Trim12c	T	G	7: 103,997,271 (GRCm39)	N95T		Het
Urb1	T	C	16: 90,571,513 (GRCm39)	T1099A	probably benign	Het
Vmn1r44	T	A	6: 89,870,578 (GRCm39)	V108D	probably damaging	Het
Vmn2r65	A	G	7: 84,589,388 (GRCm39)	Y843H	probably benign	Het
Vmn2r68	A	G	7: 84,871,321 (GRCm39)	I654T	possibly damaging	Het
Vps13a	T	C	19: 16,623,270 (GRCm39)	N2797S	possibly damaging	Het
Wscd2	T	C	5: 113,712,235 (GRCm39)	Y385H	probably damaging	Het
Xdh	T	C	17: 74,229,500 (GRCm39)	I318V	probably benign	Het
Xrcc3	T	A	12: 111,774,313 (GRCm39)	K172M	probably 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
R0362:Stat5a	UTSW	11	100,772,909 (GRCm39)	missense	probably benign	0.01
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
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'- TGGAATGGAAGTAGATTATCTTCCCC -3'
(R):5'- ACTACAACTGACGTGGGCTC -3'

Sequencing Primer
(F):5'- GGAAGTAGATTATCTTCCCCAATCC -3'
(R):5'- TGGGCTCCTCACACTGAAG -3'

Posted On

2021-03-08