Mutagenetix > Incidental Mutation

Incidental Mutation 'R8188:Stat5b'

634991

Institutional Source

Beutler Lab

Gene Symbol

Stat5b

Ensembl Gene

ENSMUSG00000020919

Gene Name

signal transducer and activator of transcription 5B

Synonyms

MMRRC Submission

067611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100671557-100741407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100692262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 174 (I174T)

Ref Sequence

ENSEMBL: ENSMUSP00000004143 (fasta)

Gene Model

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

AlphaFold

P42232

Predicted Effect

probably damaging
Transcript: ENSMUST00000004143
AA Change: I174T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: I174T

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 damaging
Transcript: ENSMUST00000107358
AA Change: I174T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: I174T

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

Meta Mutation Damage Score

0.1663

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	G	4: 40,180,284 (GRCm39)	A395G	probably benign	Het
Adgrf5	G	A	17: 43,741,503 (GRCm39)	C380Y	probably damaging	Het
Astn2	T	C	4: 65,977,418 (GRCm39)	T422A	unknown	Het
Baz1b	G	T	5: 135,233,916 (GRCm39)	V148F	probably benign	Het
Bicd1	A	C	6: 149,451,854 (GRCm39)	S823R	probably damaging	Het
Bltp3b	C	T	10: 89,647,928 (GRCm39)	T1330M	possibly damaging	Het
Blvra	A	C	2: 126,937,047 (GRCm39)	S167R	probably damaging	Het
Camsap2	G	T	1: 136,225,132 (GRCm39)		probably null	Het
Card14	T	C	11: 119,228,623 (GRCm39)	S650P	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,993 (GRCm39)	D180G	possibly damaging	Het
Cdh2	A	G	18: 16,781,593 (GRCm39)	I166T	probably damaging	Het
Cdnf	T	C	2: 3,514,228 (GRCm39)	V22A	probably benign	Het
Cfhr4	T	A	1: 139,625,868 (GRCm39)	I869F	probably damaging	Het
Chd2	T	A	7: 73,079,504 (GRCm39)	K1799*	probably null	Het
Col20a1	G	A	2: 180,658,126 (GRCm39)		probably null	Het
Cyp4a31	T	C	4: 115,426,943 (GRCm39)	I182T	probably benign	Het
Dap3	A	T	3: 88,843,543 (GRCm39)	F25L	probably benign	Het
Dcc	T	A	18: 71,943,928 (GRCm39)	Y241F	probably benign	Het
Ddx46	A	G	13: 55,814,029 (GRCm39)	I662V	possibly damaging	Het
Dzip3	T	C	16: 48,772,499 (GRCm39)	D390G	probably damaging	Het
Eif1	A	G	11: 100,211,624 (GRCm39)	D55G	probably benign	Het
Exosc5	T	A	7: 25,358,790 (GRCm39)	S44T	probably damaging	Het
Fat2	A	G	11: 55,163,997 (GRCm39)	V3086A	probably damaging	Het
Fcamr	T	A	1: 130,730,665 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,309,004 (GRCm39)	D50G	probably damaging	Het
Gm7298	A	G	6: 121,763,537 (GRCm39)		probably null	Het
Hfe	A	G	13: 23,892,175 (GRCm39)	V63A	probably damaging	Het
Hoxd11	T	A	2: 74,514,298 (GRCm39)	I276N	probably damaging	Het
Htt	T	C	5: 34,919,287 (GRCm39)	S13P	probably benign	Het
Il12a	T	A	3: 68,598,872 (GRCm39)	C18S	unknown	Het
Itk	G	T	11: 46,222,776 (GRCm39)	Y564*	probably null	Het
Lrrc46	A	T	11: 96,931,705 (GRCm39)	L39Q	probably damaging	Het
Myom3	T	A	4: 135,507,231 (GRCm39)	L537Q	probably damaging	Het
Nrap	A	C	19: 56,325,010 (GRCm39)	Y1234*	probably null	Het
Or51q1	T	C	7: 103,628,743 (GRCm39)	S121P	probably damaging	Het
Or8b9	A	T	9: 37,766,407 (GRCm39)	M98L	probably benign	Het
Parn	T	C	16: 13,359,020 (GRCm39)	D574G	probably benign	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pclo	T	A	5: 14,725,193 (GRCm39)	S1350R	unknown	Het
Pira13	T	C	7: 3,826,126 (GRCm39)	H289R	unknown	Het
Plaa	T	C	4: 94,474,586 (GRCm39)	Q272R	probably damaging	Het
Rfx6	T	A	10: 51,594,292 (GRCm39)	I174N	probably benign	Het
Ripk2	T	A	4: 16,139,218 (GRCm39)	K226N	probably damaging	Het
Scgb1b2	T	C	7: 30,990,946 (GRCm39)	D54G	possibly damaging	Het
Slc45a4	T	C	15: 73,456,383 (GRCm39)	Y599C	probably benign	Het
Slc7a13	T	C	4: 19,819,082 (GRCm39)	V94A	probably benign	Het
Slc7a8	A	G	14: 54,972,579 (GRCm39)	F281L	probably benign	Het
Slco4c1	T	A	1: 96,772,261 (GRCm39)	T243S	probably damaging	Het
Smim30	C	T	6: 13,870,541 (GRCm39)	G57E	probably damaging	Het
Styk1	C	A	6: 131,281,848 (GRCm39)	V257L	probably benign	Het
Tmem268	T	C	4: 63,498,209 (GRCm39)	F210L	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vps50	T	A	6: 3,562,297 (GRCm39)	L464*	probably null	Het
Zfhx2	A	T	14: 55,301,898 (GRCm39)	S2029T	probably benign	Het
Zfp235	T	A	7: 23,841,296 (GRCm39)	F572I	probably damaging	Het
Zfp280d	T	C	9: 72,267,615 (GRCm39)	I766T	probably benign	Het
Zfr	T	G	15: 12,171,904 (GRCm39)	C933W	probably damaging	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
R9022:Stat5b	UTSW	11	100,681,634 (GRCm39)	missense	probably benign
R9114:Stat5b	UTSW	11	100,692,350 (GRCm39)	missense	probably damaging	0.97
R9449:Stat5b	UTSW	11	100,681,674 (GRCm39)	missense	probably benign	0.00
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'- GGTGCCATGTTCTCTCCCTAAG -3'
(R):5'- CACCTAGGGATTAAGACCGAAG -3'

Sequencing Primer
(F):5'- ATGTTCTCTCCCTAAGCTACCCAG -3'
(R):5'- CCGAAGGCTTCTTCCCAC -3'

Posted On

2020-07-13