Incidental Mutation 'R5738:Sav1'
ID 444640
Institutional Source Beutler Lab
Gene Symbol Sav1
Ensembl Gene ENSMUSG00000021067
Gene Name salvador family WW domain containing 1
Synonyms 1700040G09Rik, Salv, WW45
MMRRC Submission 043350-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5738 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 70011786-70033776 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70022817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 245 (E245G)
Ref Sequence ENSEMBL: ENSMUSP00000021467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021467]
AlphaFold Q8VEB2
PDB Structure Solution structure of the second WW domain from mouse salvador homolog 1 protein (mWW45) [SOLUTION NMR]
Solution structure of the first WW domain from the mouse salvador homolog 1 protein (SAV1) [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021467
AA Change: E245G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021467
Gene: ENSMUSG00000021067
AA Change: E245G

DomainStartEndE-ValueType
WW 201 233 1.63e-8 SMART
WW 236 268 4.98e-4 SMART
low complexity region 276 287 N/A INTRINSIC
coiled coil region 345 368 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221921
Meta Mutation Damage Score 0.1315 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for a null allele display fetal growth retardation and lethality, show multiple tissue hyperplasia and dysplasia due to unchecked proliferation and impaired terminal differentiation of epithelial cells, and develop hepatomas. Heterozygotes are prone to tumorigenesis and die prematurely. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,571,917 (GRCm39) D4826V probably damaging Het
Acoxl G A 2: 127,719,686 (GRCm39) C149Y probably benign Het
Adamts3 G T 5: 89,856,527 (GRCm39) H349N probably damaging Het
Ap2b1 A G 11: 83,227,256 (GRCm39) probably null Het
Ap3m2 T C 8: 23,293,877 (GRCm39) S58G possibly damaging Het
Bhmt2 A T 13: 93,799,798 (GRCm39) W213R probably benign Het
Cacna1h T G 17: 25,606,023 (GRCm39) D1092A probably damaging Het
Cbfb A C 8: 105,929,193 (GRCm39) Q170P probably damaging Het
Ccdc73 A C 2: 104,761,331 (GRCm39) K110N possibly damaging Het
Cep350 C A 1: 155,741,824 (GRCm39) R2149L probably damaging Het
Cog2 A G 8: 125,272,777 (GRCm39) T525A probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fbxl5 A G 5: 43,920,170 (GRCm39) I251T probably benign Het
Fscn3 A G 6: 28,430,030 (GRCm39) K67E possibly damaging Het
Glmp T A 3: 88,233,445 (GRCm39) N133K probably benign Het
Gpr179 T C 11: 97,242,232 (GRCm39) N204S probably damaging Het
Gtf2ird1 C T 5: 134,412,672 (GRCm39) R613Q probably damaging Het
Hepacam A G 9: 37,294,721 (GRCm39) D285G possibly damaging Het
Hipk4 G A 7: 27,227,841 (GRCm39) V196M probably damaging Het
Hlx A T 1: 184,463,754 (GRCm39) probably null Het
Igf2r A T 17: 12,936,254 (GRCm39) D597E probably benign Het
Ighm T C 12: 113,385,115 (GRCm39) T282A unknown Het
Igsf9b T C 9: 27,239,826 (GRCm39) C624R probably damaging Het
Ksr2 T C 5: 117,886,864 (GRCm39) V800A probably damaging Het
Lyn A T 4: 3,782,987 (GRCm39) I386F probably damaging Het
Melk A G 4: 44,310,333 (GRCm39) D102G probably damaging Het
Mettl1 G T 10: 126,877,863 (GRCm39) E4* probably null Het
Mybl2 C T 2: 162,910,203 (GRCm39) Q210* probably null Het
Naga C T 15: 82,219,054 (GRCm39) W231* probably null Het
Or2y3 T C 17: 38,393,347 (GRCm39) Y174C probably damaging Het
Or4k2 C T 14: 50,424,105 (GRCm39) V190I probably benign Het
Or7g16 T C 9: 18,727,125 (GRCm39) N155S possibly damaging Het
Otud4 T C 8: 80,400,090 (GRCm39) S935P probably benign Het
P2rx7 C T 5: 122,790,852 (GRCm39) T63I probably damaging Het
Pga5 A T 19: 10,647,024 (GRCm39) N260K probably benign Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Plch1 T A 3: 63,681,076 (GRCm39) R184W probably damaging Het
Ppm1b T C 17: 85,301,374 (GRCm39) F85L probably benign Het
Prtg T A 9: 72,819,288 (GRCm39) F1094I probably benign Het
Ralgds G A 2: 28,432,538 (GRCm39) probably benign Het
Rgs17 A C 10: 5,783,140 (GRCm39) V149G probably damaging Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Slc25a19 T C 11: 115,515,060 (GRCm39) I33V probably benign Het
Sptbn1 T C 11: 30,095,941 (GRCm39) I318V probably damaging Het
Tas2r136 A G 6: 132,754,707 (GRCm39) L140P probably damaging Het
Tbc1d9 A G 8: 83,997,655 (GRCm39) I1071V probably benign Het
Tecta G T 9: 42,284,474 (GRCm39) N870K possibly damaging Het
Tmem230 G A 2: 132,086,048 (GRCm39) P38L possibly damaging Het
Trpa1 G T 1: 14,946,174 (GRCm39) H986N probably damaging Het
Wdr41 A T 13: 95,114,996 (GRCm39) I24L possibly damaging Het
Other mutations in Sav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Sav1 APN 12 70,033,550 (GRCm39) utr 5 prime probably benign
R0512:Sav1 UTSW 12 70,015,975 (GRCm39) nonsense probably null
R0883:Sav1 UTSW 12 70,012,979 (GRCm39) missense probably benign
R1210:Sav1 UTSW 12 70,015,953 (GRCm39) missense probably damaging 1.00
R1636:Sav1 UTSW 12 70,031,269 (GRCm39) missense probably benign 0.01
R3159:Sav1 UTSW 12 70,031,326 (GRCm39) missense probably benign 0.01
R4601:Sav1 UTSW 12 70,031,095 (GRCm39) missense probably benign 0.00
R7106:Sav1 UTSW 12 70,031,390 (GRCm39) missense probably damaging 0.99
R7788:Sav1 UTSW 12 70,030,995 (GRCm39) missense probably damaging 1.00
R7935:Sav1 UTSW 12 70,033,481 (GRCm39) missense probably damaging 1.00
R9178:Sav1 UTSW 12 70,022,790 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTTCAAGATGCTTATCCCTTC -3'
(R):5'- CAGGCATTCGAGTACTTGCTCC -3'

Sequencing Primer
(F):5'- CTTTACCTCGGAGCACA -3'
(R):5'- GAGAGTCACGGCTACATCTCTAG -3'
Posted On 2016-11-21