Mutagenetix > Incidental Mutation

Incidental Mutation 'R9449:Stat5b'

714143

Institutional Source

Beutler Lab

Gene Symbol

Stat5b

Ensembl Gene

ENSMUSG00000020919

Gene Name

signal transducer and activator of transcription 5B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100671557-100741407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100681674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 527 (K527E)

Ref Sequence

ENSEMBL: ENSMUSP00000004143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004143] [ENSMUST00000107358]

AlphaFold

P42232

Predicted Effect

probably benign
Transcript: ENSMUST00000004143
AA Change: K527E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: K527E

Domain	Start	End	E-Value	Type
STAT_int	2	126	2.3e-60	SMART
Pfam:STAT_alpha	138	330	1e-57	PFAM
Pfam:STAT_bind	332	583	1.6e-100	PFAM
SH2	587	676	3.23e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107358
AA Change: K527E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: K527E

Domain	Start	End	E-Value	Type
STAT_int	2	126	2.3e-60	SMART
Pfam:STAT_alpha	141	330	7.1e-56	PFAM
Pfam:STAT_bind	332	582	3.3e-105	PFAM
SH2	587	676	3.23e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this are reduced in size and mammary glands secrete reduced levels of some milk proteins during lactation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aarsd1	A	C	11: 101,301,597 (GRCm39)	S262A	probably benign	Het
Abhd17c	A	G	7: 83,763,637 (GRCm39)	Y189H	probably damaging	Het
Adam33	T	C	2: 130,895,606 (GRCm39)	R570G	possibly damaging	Het
Alpk2	G	A	18: 65,424,464 (GRCm39)	R1441W	probably damaging	Het
Arhgap21	A	G	2: 20,885,464 (GRCm39)	V581A	probably benign	Het
Bcat2	T	C	7: 45,234,980 (GRCm39)	V226A	possibly damaging	Het
Cdh10	A	G	15: 19,013,521 (GRCm39)	N707S	possibly damaging	Het
Chd9	T	C	8: 91,659,174 (GRCm39)	F45L	unknown	Het
Clec1a	T	C	6: 129,428,606 (GRCm39)	T25A	probably benign	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Cthrc1	A	G	15: 38,947,868 (GRCm39)	T196A	probably benign	Het
Ctsm	A	T	13: 61,686,299 (GRCm39)	V228D	probably damaging	Het
Dennd3	A	T	15: 73,429,477 (GRCm39)	D920V	probably damaging	Het
Dnah17	A	G	11: 117,987,452 (GRCm39)	I1286T	probably benign	Het
Dnah3	T	A	7: 119,551,473 (GRCm39)	T2949S	probably benign	Het
Dram1	C	T	10: 88,192,703 (GRCm39)	V28M	probably benign	Het
Eml5	A	G	12: 98,827,554 (GRCm39)	Y559H	probably damaging	Het
Ermard	C	T	17: 15,273,554 (GRCm39)	R380C	possibly damaging	Het
Fam181a	A	G	12: 103,282,107 (GRCm39)	D4G	probably damaging	Het
Gabrd	C	A	4: 155,472,803 (GRCm39)	V127L	probably damaging	Het
Galnt12	T	A	4: 47,104,163 (GRCm39)	Y140*	probably null	Het
Gpr161	A	T	1: 165,146,389 (GRCm39)	K442*	probably null	Het
Haus6	A	T	4: 86,513,665 (GRCm39)	N332K	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Itsn1	T	A	16: 91,625,264 (GRCm39)	*622R	probably null	Het
Kcna2	T	A	3: 107,012,887 (GRCm39)	Y489*	probably null	Het
Limk1	A	G	5: 134,701,864 (GRCm39)		probably null	Het
Manba	A	T	3: 135,255,079 (GRCm39)	D479V	probably benign	Het
Myh6	A	T	14: 55,189,779 (GRCm39)	I1089N	possibly damaging	Het
Npas4	T	A	19: 5,038,492 (GRCm39)	D142V	probably damaging	Het
Nr4a1	T	C	15: 101,168,053 (GRCm39)	F30L	probably benign	Het
Numbl	C	T	7: 26,976,327 (GRCm39)	R336C		Het
Or10x4	G	A	1: 174,218,742 (GRCm39)	A36T	probably benign	Het
Or5p4	T	C	7: 107,680,040 (GRCm39)	I13T		Het
Parp9	T	C	16: 35,777,234 (GRCm39)	S393P	probably damaging	Het
Pcdha11	A	G	18: 37,145,484 (GRCm39)	E525G	probably damaging	Het
Pdia2	T	C	17: 26,416,174 (GRCm39)	T298A	probably benign	Het
Per3	G	A	4: 151,094,945 (GRCm39)	T946I	probably benign	Het
Pla2r1	A	T	2: 60,258,902 (GRCm39)	V1162D	probably damaging	Het
Plxnd1	T	A	6: 115,932,730 (GRCm39)	N1917Y	probably damaging	Het
Pole3	A	T	4: 62,442,277 (GRCm39)	D114E	unknown	Het
Ppil3	T	C	1: 58,470,397 (GRCm39)	D151G	probably benign	Het
Psd3	A	T	8: 68,165,833 (GRCm39)	M365K	unknown	Het
Psme2b	T	G	11: 48,836,566 (GRCm39)	H127P	probably damaging	Het
Ric8a	C	G	7: 140,437,393 (GRCm39)	R4G	probably benign	Het
Rock2	A	T	12: 17,027,763 (GRCm39)	D1360V	probably damaging	Het
Simc1	A	G	13: 54,674,192 (GRCm39)	T847A	probably benign	Het
Slc12a1	T	A	2: 125,028,144 (GRCm39)	V480E	probably damaging	Het
Slc32a1	T	C	2: 158,456,241 (GRCm39)	F299L	probably benign	Het
Slc44a2	A	G	9: 21,258,333 (GRCm39)	Y500C		Het
Ssbp2	A	G	13: 91,823,157 (GRCm39)	D192G	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Usp50	A	G	2: 126,619,817 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,053 (GRCm39)	M70L	probably benign	Het
Vmn1r40	A	G	6: 89,691,854 (GRCm39)	T224A	probably benign	Het
Vmn2r116	A	G	17: 23,605,919 (GRCm39)	D277G	probably benign	Het
Vti1a	T	A	19: 55,612,278 (GRCm39)	I197N	possibly damaging	Het
Zfyve9	C	A	4: 108,576,435 (GRCm39)	L215F	probably damaging	Het
Znrf3	A	T	11: 5,288,710 (GRCm39)	Y19*	probably null	Het

Other mutations in Stat5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02208:Stat5b	APN	11	100,695,739 (GRCm39)	missense	probably damaging	1.00
IGL02675:Stat5b	APN	11	100,678,200 (GRCm39)	missense	probably benign	0.26
IGL02683:Stat5b	APN	11	100,695,772 (GRCm39)	missense	probably benign	0.11
IGL02725:Stat5b	APN	11	100,695,840 (GRCm39)	missense	possibly damaging	0.91
R0305:Stat5b	UTSW	11	100,693,329 (GRCm39)	missense	probably benign	0.00
R0315:Stat5b	UTSW	11	100,679,286 (GRCm39)	missense	probably benign	0.01
R0452:Stat5b	UTSW	11	100,689,156 (GRCm39)	missense	probably benign	0.00
R1267:Stat5b	UTSW	11	100,689,419 (GRCm39)	missense	probably benign	0.08
R1527:Stat5b	UTSW	11	100,699,220 (GRCm39)	critical splice donor site	probably null
R2059:Stat5b	UTSW	11	100,678,158 (GRCm39)	missense	probably benign	0.12
R2316:Stat5b	UTSW	11	100,687,318 (GRCm39)	missense	probably damaging	1.00
R2990:Stat5b	UTSW	11	100,699,188 (GRCm39)	splice site	probably null
R4380:Stat5b	UTSW	11	100,678,175 (GRCm39)	missense	probably damaging	1.00
R4478:Stat5b	UTSW	11	100,678,110 (GRCm39)	missense	probably benign	0.31
R4584:Stat5b	UTSW	11	100,678,064 (GRCm39)	missense	probably damaging	1.00
R4806:Stat5b	UTSW	11	100,681,623 (GRCm39)	missense	probably benign
R4931:Stat5b	UTSW	11	100,675,080 (GRCm39)	nonsense	probably null
R5008:Stat5b	UTSW	11	100,693,309 (GRCm39)	missense	probably benign	0.00
R5015:Stat5b	UTSW	11	100,695,831 (GRCm39)	missense	possibly damaging	0.64
R5072:Stat5b	UTSW	11	100,699,361 (GRCm39)	critical splice acceptor site	probably null
R5601:Stat5b	UTSW	11	100,674,001 (GRCm39)	missense	probably damaging	0.99
R5638:Stat5b	UTSW	11	100,675,080 (GRCm39)	nonsense	probably null
R5901:Stat5b	UTSW	11	100,695,733 (GRCm39)	missense	possibly damaging	0.62
R6577:Stat5b	UTSW	11	100,688,526 (GRCm39)	missense	probably benign	0.00
R7882:Stat5b	UTSW	11	100,674,601 (GRCm39)	missense	possibly damaging	0.55
R8147:Stat5b	UTSW	11	100,688,607 (GRCm39)	missense	probably benign	0.06
R8188:Stat5b	UTSW	11	100,692,262 (GRCm39)	missense	probably damaging	1.00
R9022:Stat5b	UTSW	11	100,681,634 (GRCm39)	missense	probably benign
R9114:Stat5b	UTSW	11	100,692,350 (GRCm39)	missense	probably damaging	0.97
R9489:Stat5b	UTSW	11	100,699,276 (GRCm39)	missense	possibly damaging	0.50
R9492:Stat5b	UTSW	11	100,692,361 (GRCm39)	missense	probably benign	0.01
R9605:Stat5b	UTSW	11	100,699,276 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GACCTTGGGTAGAGCTCATGAG -3'
(R):5'- ATGCTCAGGTTTGGCAAGAC -3'

Sequencing Primer
(F):5'- CCTTGGGTAGAGCTCATGAGAAATAG -3'
(R):5'- TTTGGCAAGACAAACCCAACTC -3'

Posted On

2022-06-15