Mutagenetix > Incidental Mutation

Incidental Mutation 'R8970:Stat5a'

683032

Institutional Source

Beutler Lab

Gene Symbol

Stat5a

Ensembl Gene

ENSMUSG00000004043

Gene Name

signal transducer and activator of transcription 5A

Synonyms

STAT5

MMRRC Submission

068804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100750177-100775995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100771353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 612 (D612G)

Ref Sequence

ENSEMBL: ENSMUSP00000102980 (fasta)

Gene Model

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

AlphaFold

P42230

Predicted Effect

probably benign
Transcript: ENSMUST00000004145
AA Change: D612G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: D612G

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: D612G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: D612G

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: D612G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: D612G

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

Meta Mutation Damage Score

0.0655

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abca2	T	C	2: 25,335,728 (GRCm39)	V2113A	probably benign	Het
Adam10	A	G	9: 70,655,458 (GRCm39)	N309D	probably benign	Het
Adcy1	T	A	11: 7,099,983 (GRCm39)	W698R	probably benign	Het
Adnp	T	C	2: 168,031,290 (GRCm39)	N7S	possibly damaging	Het
Ankar	A	G	1: 72,691,496 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,575,590 (GRCm39)	I274K	probably benign	Het
Apela	A	T	8: 65,489,601 (GRCm39)	L6H	unknown	Het
Ash1l	T	C	3: 88,976,307 (GRCm39)	I2629T	probably benign	Het
Auts2	C	T	5: 132,287,791 (GRCm39)	R64K	possibly damaging	Het
Bms1	A	G	6: 118,369,292 (GRCm39)	V1003A	possibly damaging	Het
C2cd3	T	C	7: 100,068,971 (GRCm39)	V555A		Het
C2cd6	T	A	1: 59,108,895 (GRCm39)	H252L	possibly damaging	Het
Capn3	G	T	2: 120,294,566 (GRCm39)	K71N	possibly damaging	Het
Chct1	A	G	11: 85,069,246 (GRCm39)	E198G	probably benign	Het
Clec2l	C	A	6: 38,657,122 (GRCm39)	T195K	possibly damaging	Het
Col27a1	T	C	4: 63,134,105 (GRCm39)	S15P	unknown	Het
Coro2b	T	C	9: 62,333,809 (GRCm39)		probably benign	Het
Crocc2	A	T	1: 93,116,687 (GRCm39)	T233S	probably benign	Het
Ddb1	A	G	19: 10,585,808 (GRCm39)	Q174R	probably benign	Het
Denr	C	T	5: 124,055,279 (GRCm39)	P48L	probably damaging	Het
Dusp26	A	G	8: 31,584,232 (GRCm39)	Y113C	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,236,154 (GRCm39)		probably benign	Het
Fgf2	G	T	3: 37,458,767 (GRCm39)	V96F	probably benign	Het
Gpr139	A	G	7: 118,744,034 (GRCm39)	Y184H	probably damaging	Het
Gtf3c1	A	C	7: 125,272,227 (GRCm39)		probably benign	Het
Gucy1b2	A	G	14: 62,656,664 (GRCm39)	V231A	possibly damaging	Het
Gucy2g	T	C	19: 55,191,478 (GRCm39)	E991G	possibly damaging	Het
Gvin1	A	T	7: 105,762,647 (GRCm39)	H607Q	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hes3	A	G	4: 152,376,036 (GRCm39)		probably null	Het
Il11	A	G	7: 4,779,181 (GRCm39)	L72P	probably damaging	Het
Iqsec3	T	A	6: 121,366,528 (GRCm39)	I785F	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrpprc	T	A	17: 85,074,483 (GRCm39)	T475S	probably damaging	Het
Lrrc63	T	A	14: 75,362,631 (GRCm39)	T300S	unknown	Het
Lsamp	A	T	16: 41,994,528 (GRCm39)	I331F	possibly damaging	Het
Ltn1	A	T	16: 87,212,926 (GRCm39)	I545K	probably benign	Het
Mab21l4	G	C	1: 93,087,533 (GRCm39)	P107A	probably benign	Het
Med13l	G	A	5: 118,883,164 (GRCm39)	R1341H	probably damaging	Het
Msh4	T	A	3: 153,575,369 (GRCm39)	K669*	probably null	Het
Myo10	T	A	15: 25,803,467 (GRCm39)	L1558H	possibly damaging	Het
Ncbp1	G	A	4: 46,170,023 (GRCm39)	V699M	probably damaging	Het
Or12k8	T	A	2: 36,975,478 (GRCm39)	Y94F	probably benign	Het
Or56b1b	A	G	7: 108,164,997 (GRCm39)	S2P	probably benign	Het
Or5b114-ps1	T	G	19: 13,353,117 (GRCm39)	S264A	unknown	Het
Or5b99	T	A	19: 12,976,353 (GRCm39)	M1K	probably null	Het
Parpbp	G	A	10: 87,962,186 (GRCm39)	R165W	probably damaging	Het
Pcdhgb7	T	A	18: 37,885,631 (GRCm39)	M267K	probably benign	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Ppfia4	A	G	1: 134,252,289 (GRCm39)	L395P	probably damaging	Het
Pramel42	T	C	5: 94,685,645 (GRCm39)	V435A	probably benign	Het
Ptprh	T	C	7: 4,583,944 (GRCm39)	D216G	possibly damaging	Het
Ptprs	A	G	17: 56,730,353 (GRCm39)	S1174P	possibly damaging	Het
Shf	A	G	2: 122,187,654 (GRCm39)	S51P	probably benign	Het
Sinhcaf	A	T	6: 148,834,624 (GRCm39)	F2I	probably damaging	Het
Slc19a3	A	T	1: 83,000,822 (GRCm39)	L65Q	probably damaging	Het
Srgap2	G	A	1: 131,226,104 (GRCm39)	L390F		Het
Srpk1	T	C	17: 28,818,493 (GRCm39)	T448A	probably benign	Het
Supt4a	A	T	11: 87,633,645 (GRCm39)	E67V	probably benign	Het
Tango6	T	A	8: 107,415,871 (GRCm39)	C231S	probably damaging	Het
Th	A	G	7: 142,446,796 (GRCm39)	L490P	probably damaging	Het
Tpcn1	C	T	5: 120,682,518 (GRCm39)	G497S	probably damaging	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vmn2r56	T	C	7: 12,428,632 (GRCm39)	R545G	probably damaging	Het
Vmn2r84	T	C	10: 130,222,244 (GRCm39)	T659A	probably damaging	Het
Vps13c	T	C	9: 67,852,803 (GRCm39)	M2361T	probably benign	Het
Zfp217	T	C	2: 169,956,997 (GRCm39)	D667G	possibly damaging	Het
Zfp952	T	G	17: 33,221,810 (GRCm39)	C96W	probably benign	Het
Zfp959	A	G	17: 56,204,836 (GRCm39)	Q291R	possibly damaging	Het
Zscan4-ps3	T	C	7: 11,344,414 (GRCm39)	V124A	probably benign	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
R8680:Stat5a	UTSW	11	100,774,714 (GRCm39)	missense	unknown
R8923:Stat5a	UTSW	11	100,771,308 (GRCm39)	missense
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'- CATAAGCCCCATTGGAATGATGG -3'
(R):5'- ATGTGGAGCCATTTCCCTTC -3'

Sequencing Primer
(F):5'- TGGGTAAGAATCAGGACCCTG -3'
(R):5'- TCCTGCCTCTACCGGAAGTG -3'

Posted On

2021-10-11